Mitochondrial Metabolism in Major Neurological Diseases (Q60949053)

1

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Grant L Austin

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Lyndsay E A Young

3

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Lance A Johnson

Creative Commons Attribution 4.0 International

4

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language of work or name

English

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publication date

23 November 2018

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published in

Cells

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volume

7

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issue

12

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page(s)

229

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copyright license

start time

23 November 2018

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Evidence that glutamine, not sugar, is the major energy source for cultured HeLa cells

1 reference

12 December 2020

Carnitine palmitoyltransferase I. The site of inhibition of hepatic fatty acid oxidation by malonyl-CoA

1 reference

12 December 2020

Methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. A multifunctional protein from porcine liver

1 reference

12 December 2020

A possible role for malonyl-CoA in the regulation of hepatic fatty acid oxidation and ketogenesis

1 reference

12 December 2020

On glutaminase activity in mammalian synaptosomes

1 reference

12 December 2020

Modulation of the mitochondrial cyclosporin A-sensitive permeability transition pore by the proton electrochemical gradient. Evidence that the pore can be opened by membrane depolarization

1 reference

12 December 2020

Compartmentation of folate-mediated one-carbon metabolism in eukaryotes

1 reference

12 December 2020

Massive increases in extracellular potassium and the indiscriminate release of glutamate following concussive brain injury

1 reference

12 December 2020

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

1 reference

12 December 2020

Cytochrome oxidase deficiency in Alzheimer's disease

1 reference

12 December 2020

Molecular biology and biochemistry of pyruvate dehydrogenase complexes.

1 reference

12 December 2020

Longitudinal study of cerebral metabolic asymmetries and associated neuropsychological patterns in early dementia of the Alzheimer type

1 reference

12 December 2020

Effects of Ca2 on the activities of the calcium-sensitive dehydrogenases within the mitochondria of mammalian tissues

1 reference

12 December 2020

Regulation of citric acid cycle by calcium

1 reference

12 December 2020

The role of excitatory amino acids and NMDA receptors in traumatic brain injury

1 reference

12 December 2020

Domain structure of mitochondrial and chloroplast targeting peptides

1 reference

12 December 2020

Dynamics of mitochondrial DNA evolution in animals: amplification and sequencing with conserved primers

1 reference

12 December 2020

The mitochondrial electron transport and oxidative phosphorylation system

1 reference

12 December 2020

A new folate antimetabolite, 5,10-dideaza-5,6,7,8-tetrahydrofolate is a potent inhibitor of de novo purine synthesis

1 reference

12 December 2020

Stability of metabolic and neuropsychological asymmetries in dementia of the Alzheimer type

1 reference

12 December 2020

Ammonia production in muscle and other tissues: the purine nucleotide cycle

1 reference

12 December 2020

Alpha-keto acid dehydrogenase complexes. X. Regulation of the activity of the pyruvate dehydrogenase complex from beef kidney mitochondria by phosphorylation and dephosphorylation

1 reference

12 December 2020

Citrate and the conversion of carbohydrate into fat. Fatty acid synthesis by a combination of cytoplasm and mitochondria

1 reference

12 December 2020

Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain

1 reference

12 December 2020

Maternal inheritance of human mitochondrial DNA

1 reference

12 December 2020

Positron emission tomographic studies of aging and Alzheimer disease.

1 reference

12 December 2020

Regional cerebral metabolic alterations in dementia of the Alzheimer type: positron emission tomography with [18F]fluorodeoxyglucose

1 reference

12 December 2020

Alzheimer's disease: focal cortical changes shown by positron emission tomography

1 reference

12 December 2020

Pyruvate carboxylase activity in primary cultures of astrocytes and neurons

1 reference

12 December 2020

Intracellular calcium accumulation in rat hippocampus during seizures induced by bicuculline or L-allylglycine

1 reference

12 December 2020

Regional cerebral oxygen supply and utilization in dementia. A clinical and physiological study with oxygen-15 and positron tomography

1 reference

12 December 2020

Serine hydroxymethyltransferase.

1 reference

12 December 2020

Mapping studies on human mitochondrial glutamate oxaloacetate transaminase

1 reference

12 December 2020

Lactate accumulation following concussive brain injury: the role of ionic fluxes induced by excitatory amino acids.

1 reference

12 December 2020

Glutamate-induced neuronal death: A succession of necrosis or apoptosis depending on mitochondrial function

1 reference

12 December 2020

Utilization of glutamine and of TCA cycle constituents as precursors for transmitter glutamate and GABA.

1 reference

12 December 2020

Apolipoprotein E type 4 allele and cerebral glucose metabolism in relatives at risk for familial Alzheimer disease

1 reference

12 December 2020

Cytochrome c oxidase in Alzheimer's disease brain: purification and characterization

1 reference

12 December 2020

Oxidative stress, glutamate, and neurodegenerative disorders

1 reference

12 December 2020

A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene

1 reference

12 December 2020

Altered cerebral energy metabolism in Alzheimer's disease: a PET study.

1 reference

12 December 2020

Preclinical evidence of Alzheimer's disease in persons homozygous for the epsilon 4 allele for apolipoprotein E.

1 reference

12 December 2020

Causes of epilepsy: contributions of the Rochester epidemiology project.

1 reference

12 December 2020

Mitochondrial dysfunction and calcium perturbation induced by traumatic brain injury

1 reference

12 December 2020

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

1 reference

12 December 2020

Amelioration of Mitochondrial Function by a Novel Antioxidant U-10103 3E Following Traumatic Brain Injury in Rats

1 reference

12 December 2020

Mitochondrial dysfunction in neurodegenerative diseases

1 reference

12 December 2020

Seizures: classification, etiologies, and pathophysiology

1 reference

12 December 2020

Traumatic brain injury alters synaptic homeostasis: implications for impaired mitochondrial and transport function

1 reference

12 December 2020

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

1 reference

12 December 2020

CSF and ECF glutamate concentrations in head injured patients.

1 reference

12 December 2020

Lactate/glucose dynamics after rat fluid percussion brain injury

1 reference

12 December 2020

DNA hypermethylation in tumorigenesis: epigenetics joins genetics

1 reference

12 December 2020

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

1 reference

12 December 2020

Selective depolarization of interneurons in the early posttraumatic dentate gyrus: involvement of the Na( )/K( )-ATPase

1 reference

12 December 2020

Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease

1 reference

12 December 2020

Microdialysis-based long-term measurements of energy-related metabolites in the rat brain following a fluid percussion trauma

1 reference

12 December 2020

Mitochondrial dysfunction and oxidative stress in aging and neurodegenerative disease

1 reference

12 December 2020

Mitochondria and calcium: from cell signalling to cell death

1 reference

12 December 2020

Declining brain activity in cognitively normal apolipoprotein E epsilon 4 heterozygotes: A foundation for using positron emission tomography to efficiently test treatments to prevent Alzheimer's disease.

1 reference

12 December 2020

Mitochondrial dysfunction in bipolar disorder

1 reference

12 December 2020

Changes in regional energy metabolism after closed head injury in the rat.

1 reference

12 December 2020

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

1 reference

12 December 2020

Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease

1 reference

12 December 2020

The origin and early evolution of mitochondria

1 reference

12 December 2020

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

1 reference

12 December 2020

Snf1--a histone kinase that works in concert with the histone acetyltransferase Gcn5 to regulate transcription.

1 reference

12 December 2020

Prediction of cognitive decline in normal elderly subjects with 2-[(18)F]fluoro-2-deoxy-D-glucose/positron-emission tomography (FDG/PET).

1 reference

12 December 2020

Apolipoprotein E: far more than a lipid transport protein

1 reference

12 December 2020

The role of heme and iron-sulfur clusters in mitochondrial biogenesis, maintenance, and decay with age.

1 reference

12 December 2020

Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review

1 reference

12 December 2020

Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

1 reference

12 December 2020

The key role of anaplerosis and cataplerosis for citric acid cycle function.

1 reference

12 December 2020

Regulation of interstitial excitatory amino acid concentrations after cortical contusion injury

1 reference

12 December 2020

Alzheimer's disease and Alzheimer's dementia: distinct but overlapping entities

1 reference

12 December 2020

Characterization of the signal that directs Bcl-x(L), but not Bcl-2, to the mitochondrial outer membrane

1 reference

12 December 2020

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

1 reference

12 December 2020

Structural and functional damage sustained by mitochondria after traumatic brain injury in the rat: evidence for differentially sensitive populations in the cortex and hippocampus

1 reference

12 December 2020

The relationship between free and total calcium concentrations in the matrix of liver and brain mitochondria.

1 reference

12 December 2020

Mitochondrial intermembrane proteins in cell death

1 reference

12 December 2020

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America

1 reference

12 December 2020

Increased susceptibility of striatal mitochondria to calcium-induced permeability transition

1 reference

12 December 2020

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

1 reference

12 December 2020

An electron microscope study of the mitochondrial structure

1 reference

12 December 2020

The effect of calcium on the respiratory and phosphorylative activities of heart-muscle sarcosomes

1 reference

12 December 2020

The respiratory chain and oxidative phosphorylation

1 reference

12 December 2020

Mammalian liver phosphoneolpyruvate carboxykinase activities

1 reference

12 December 2020

GLUTAMATE DEHYDROGENASE. V. THE RELATION OF ENZYME STRUCTURE TO THE CATALYTIC FUNCTION

1 reference

12 December 2020

Functional brain abnormalities in young adults at genetic risk for late-onset Alzheimer's dementia

1 reference

12 December 2020

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

1 reference

12 December 2020

Neurodegenerative diseases and oxidative stress

1 reference

12 December 2020

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

12 December 2020

ApoE genotype accounts for the vast majority of AD risk and AD pathology

1 reference

12 December 2020

Mitochondria dysfunction of Alzheimer's disease cybrids enhances Abeta toxicity

1 reference

12 December 2020

Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome

1 reference

12 December 2020

Essential role of Mia40 in import and assembly of mitochondrial intermembrane space proteins

1 reference

12 December 2020

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

1 reference

12 December 2020

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

1 reference

12 December 2020

Mitochondrial permeability transition in CNS trauma: cause or effect of neuronal cell death?

1 reference

12 December 2020

Reactive oxygen species and the mitochondrial signaling pathway of cell death

1 reference

12 December 2020

Amyloid beta induces neuronal cell death through ROS-mediated ASK1 activation

1 reference

12 December 2020

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

1 reference

12 December 2020

Cerebral oxidative stress and depression of energy metabolism correlate with severity of diffuse brain injury in rats

1 reference

12 December 2020

Mitochondrial metabolism of reactive oxygen species.

1 reference

12 December 2020

Mitochondrial abnormalities in Alzheimer brain: mechanistic implications

1 reference

12 December 2020

A disulfide relay system in the intermembrane space of mitochondria that mediates protein import

1 reference

12 December 2020

Synaptic mitochondria are critical for mobilization of reserve pool vesicles at Drosophila neuromuscular junctions

1 reference

12 December 2020

Mitochondrial damage and dysfunction in traumatic brain injury

1 reference

12 December 2020

Mitochondria are involved in the neurogenic neuroprotection conferred by stimulation of cerebellar fastigial nucleus

1 reference

12 December 2020

Lipid- and receptor-binding regions of apolipoprotein E4 fragments act in concert to cause mitochondrial dysfunction and neurotoxicity

1 reference

12 December 2020

Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients

1 reference

12 December 2020

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

1 reference

12 December 2020

HIF-1 mediates adaptation to hypoxia by actively downregulating mitochondrial oxygen consumption

1 reference

12 December 2020

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

1 reference

12 December 2020

The mitochondrial permeability transition from in vitro artifact to disease target

1 reference

12 December 2020

Profile and regulation of apolipoprotein E (ApoE) expression in the CNS in mice with targeting of green fluorescent protein gene to the ApoE locus.

1 reference

12 December 2020

The glutamate/GABA-glutamine cycle: aspects of transport, neurotransmitter homeostasis and ammonia transfer.

1 reference

12 December 2020

Impact of recent increase in incidence on future diabetes burden: U.S., 2005-2050.

1 reference

12 December 2020

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

1 reference

12 December 2020

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

1 reference

12 December 2020

Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

1 reference

12 December 2020

Mammalian sirtuins--emerging roles in physiology, aging, and calorie restriction

1 reference

12 December 2020

Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations

1 reference

12 December 2020

Hippocampal hypometabolism predicts cognitive decline from normal aging

1 reference

12 December 2020

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

1 reference

12 December 2020

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

1 reference

12 December 2020

Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases

1 reference

12 December 2020

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

1 reference

12 December 2020

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

1 reference

12 December 2020

Temporal window of metabolic brain vulnerability to concussions: mitochondrial-related impairment--part I.

1 reference

12 December 2020

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

1 reference

12 December 2020

NLRX1 is a mitochondrial NOD-like receptor that amplifies NF-kappaB and JNK pathways by inducing reactive oxygen species production

1 reference

12 December 2020

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.

1 reference

12 December 2020

Oligomeric and fibrillar species of beta-amyloid (A beta 42) both impair mitochondrial function in P301L tau transgenic mice

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12 December 2020

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease

1 reference

12 December 2020

Mitochondrial dysfunction and psychiatric disorders

1 reference

12 December 2020

Mitochondrial energetic metabolism: a simplified model of TCA cycle with ATP production

1 reference

12 December 2020

Mitochondrial fatty acid synthesis type II: more than just fatty acids

1 reference

12 December 2020

The role of mitochondria in reactive oxygen species metabolism and signaling

1 reference

12 December 2020

An analysis of regional microvascular loss and recovery following two grades of fluid percussion trauma: a role for hypoxia-inducible factors in traumatic brain injury.

1 reference

12 December 2020

Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies

1 reference

12 December 2020

Epigenetic inheritance during the cell cycle

1 reference

12 December 2020

Mitochondrial involvement in temporal lobe epilepsy

1 reference

12 December 2020

The role of metabolic disorders in Alzheimer disease and vascular dementia: two roads converged

1 reference

12 December 2020

Mitochondrial changes within axons in multiple sclerosis

1 reference

12 December 2020

Hypoxia-inducible factor-1alpha signaling in aquaporin upregulation after traumatic brain injury

1 reference

12 December 2020

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

1 reference

12 December 2020

Role of pyruvate dehydrogenase complex in traumatic brain injury and Measurement of pyruvate dehydrogenase enzyme by dipstick test

1 reference

12 December 2020

Glutamine and glutamate as precursors of the releasable pool of gaba in brain cortex slices

1 reference

12 December 2020

The role of apolipoprotein E in Alzheimer's disease

1 reference

12 December 2020

Apolipoprotein E4 (1-272) fragment is associated with mitochondrial proteins and affects mitochondrial function in neuronal cells

1 reference

12 December 2020

Cause and consequence: mitochondrial dysfunction initiates and propagates neuronal dysfunction, neuronal death and behavioral abnormalities in age-associated neurodegenerative diseases.

1 reference

12 December 2020

Mitochondrial and apoptotic neuronal death signaling pathways in cerebral ischemia.

1 reference

12 December 2020

Amyloid-beta and tau synergistically impair the oxidative phosphorylation system in triple transgenic Alzheimer's disease mice

1 reference

12 December 2020

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

1 reference

12 December 2020

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

1 reference

12 December 2020

Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect

1 reference

12 December 2020

The role of hypoxia-inducible factor-1α, aquaporin-4, and matrix metalloproteinase-9 in blood-brain barrier disruption and brain edema after traumatic brain injury

1 reference

12 December 2020

Compartmentalization of Mammalian folate-mediated one-carbon metabolism

1 reference

12 December 2020

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

1 reference

12 December 2020

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

1 reference

12 December 2020

Reduced Posterior Cingulate Mitochondrial Activity in Expired Young Adult Carriers of the APOE ε4 Allele, the Major Late-Onset Alzheimer's Susceptibility Gene

1 reference

12 December 2020

Apolipoprotein E4 domain interaction mediates detrimental effects on mitochondria and is a potential therapeutic target for Alzheimer disease

1 reference

12 December 2020

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

1 reference

12 December 2020

Epidemiology of Alzheimer disease

1 reference

12 December 2020

The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases

1 reference

12 December 2020

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

1 reference

12 December 2020

A novel deconvolution method for modeling UDP-N-acetyl-D-glucosamine biosynthetic pathways based on (13)C mass isotopologue profiles under non-steady-state conditions

1 reference

12 December 2020

The Impact of Mitochondrial and Nuclear DNA Variants on Late-Onset Alzheimer's Disease Risk

1 reference

12 December 2020

Sirtuin-3 (Sirt3) regulates skeletal muscle metabolism and insulin signaling via altered mitochondrial oxidation and reactive oxygen species production

1 reference

12 December 2020

Proteomic analysis of mitochondria in APOE transgenic mice and in response to an ischemic challenge

1 reference

12 December 2020

Overview of glutamatergic neurotransmission in the nervous system.

1 reference

12 December 2020

Understanding mitochondrial complex I assembly in health and disease

1 reference

12 December 2020

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

1 reference

12 December 2020

Amyloid imaging in the differential diagnosis of dementia: review and potential clinical applications

1 reference

12 December 2020

Brain energy metabolism: focus on astrocyte-neuron metabolic cooperation

1 reference

12 December 2020

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

1 reference

12 December 2020

Glycine decarboxylase activity drives non-small cell lung cancer tumor-initiating cells and tumorigenesis.

1 reference

12 December 2020

Glucose-independent glutamine metabolism via TCA cycling for proliferation and survival in B cells

1 reference

12 December 2020

Mitochondrial disease and epilepsy

1 reference

12 December 2020

Prolonged seizure activity impairs mitochondrial bioenergetics and induces cell death

1 reference

12 December 2020

IDH mutation impairs histone demethylation and results in a block to cell differentiation

1 reference

12 December 2020

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

1 reference

12 December 2020

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

1 reference

12 December 2020

Energy depletion in seizures: anaplerosis as a strategy for future therapies

1 reference

12 December 2020

Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors

1 reference

12 December 2020

Mitochondrial function and dysfunction: an update

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12 December 2020

An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder

1 reference

12 December 2020

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

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12 December 2020

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12 December 2020

A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions.

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12 December 2020

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

1 reference

12 December 2020

Mitochondria in traumatic brain injury and mitochondrial-targeted multipotential therapeutic strategies

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12 December 2020

An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect

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12 December 2020

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

1 reference

12 December 2020

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

1 reference

12 December 2020

Alzheimer's disease: critical notes on the history of a medical concept

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12 December 2020

TET2 promotes histone O-GlcNAcylation during gene transcription

1 reference

12 December 2020

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

1 reference

12 December 2020

Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency

1 reference

12 December 2020

A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy

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12 December 2020

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

1 reference

12 December 2020

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

1 reference

12 December 2020

Recent advances in the application of metabolomics to Alzheimer's Disease

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12 December 2020

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

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12 December 2020

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

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12 December 2020

Oncometabolites: linking altered metabolism with cancer

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12 December 2020

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

1 reference

12 December 2020

Regional variability of imaging biomarkers in autosomal dominant Alzheimer's disease

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12 December 2020

Positron Emission Tomography in the Study of Aging and Senile Dementia

1 reference

12 December 2020

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

1 reference

12 December 2020

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

1 reference

12 December 2020

Concentration dependent effect of calcium on brain mitochondrial bioenergetics and oxidative stress parameters

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12 December 2020

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

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12 December 2020

Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency

1 reference

12 December 2020

Hypoxic regulation of glutamine metabolism through HIF1 and SIAH2 supports lipid synthesis that is necessary for tumor growth

1 reference

12 December 2020

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

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12 December 2020

Mitochondrial DNA and traumatic brain injury

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12 December 2020

Activity-driven local ATP synthesis is required for synaptic function.

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12 December 2020

A multicenter study on Leigh syndrome: disease course and predictors of survival

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12 December 2020

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

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12 December 2020

Measuring Mitochondrial Function in Permeabilized Cells Using the Seahorse XF Analyzer or a Clark-Type Oxygen Electrode

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12 December 2020

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

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12 December 2020

Seizure activity results in calcium- and mitochondria-independent ROS production via NADPH and xanthine oxidase activation

1 reference

12 December 2020

Apolipoprotein E isoforms and lipoprotein metabolism

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12 December 2020

Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers.

1 reference

12 December 2020

The genetics of Leigh syndrome and its implications for clinical practice and risk management

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12 December 2020

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

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12 December 2020

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

1 reference

12 December 2020

Mitochondrial RNA Granules Are Centers for Posttranscriptional RNA Processing and Ribosome Biogenesis

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12 December 2020

Epidemiology of traumatic brain injury

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12 December 2020

Glycolysis-mediated changes in acetyl-CoA and histone acetylation control the early differentiation of embryonic stem cells.

1 reference

12 December 2020

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

1 reference

12 December 2020

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome

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12 December 2020

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

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12 December 2020

The Human Mitochondrial DNA Depletion Syndrome Gene MPV17 Encodes a Non-selective Channel That Modulates Membrane Potential.

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12 December 2020

2015 Alzheimer's disease facts and figures

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12 December 2020

Mitochondrial dysfunction and seizures: the neuronal energy crisis

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12 December 2020

Shared Neuropathological Characteristics of Obesity, Type 2 Diabetes and Alzheimer's Disease: Impacts on Cognitive Decline

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12 December 2020

Regional brain hypometabolism is unrelated to regional amyloid plaque burden

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12 December 2020

ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment

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12 December 2020

ApoE4 upregulates the activity of mitochondria-associated ER membranes

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12 December 2020

Endothelin Receptors, Mitochondria and Neurogenesis in Cerebral Ischemia

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12 December 2020

Mitochondrial Dysfunction in Gliomas: Pharmacotherapeutic Potential of Natural Compounds

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12 December 2020

Mitochondrial Dysfunction in Depression

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12 December 2020

The amyloid hypothesis of Alzheimer's disease at 25 years

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12 December 2020

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

1 reference

12 December 2020

Altered Energy Metabolism Pathways in the Posterior Cingulate in Young Adult Apolipoprotein E ɛ4 Carriers

1 reference

12 December 2020

TRNT1 deficiency: clinical, biochemical and molecular genetic features

1 reference

12 December 2020

Hypoxic repression of pyruvate dehydrogenase activity is necessary for metabolic reprogramming and growth of model tumours

1 reference

12 December 2020

Fumarate is an epigenetic modifier that elicits epithelial-to-mesenchymal transition

1 reference

12 December 2020

Transition states and cell fate decisions in epigenetic landscapes

1 reference

12 December 2020

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

1 reference

12 December 2020

Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies

1 reference

12 December 2020

JAMA Patient Page: Epilepsy.

1 reference

12 December 2020

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene

1 reference

12 December 2020

AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant

1 reference

12 December 2020

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

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12 December 2020

Platelet cytochrome oxidase and citrate synthase activities in APOE ε4 carrier and non-carrier Alzheimer's disease patients

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12 December 2020

Acetyl-CoA synthetase regulates histone acetylation and hippocampal memory.

1 reference

12 December 2020

Definition of a High-Confidence Mitochondrial Proteome at Quantitative Scale

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12 December 2020

Understanding the Epilepsy in POLG Related Disease

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12 December 2020

Apolipoprotein E4 Impairs Neuronal Insulin Signaling by Trapping Insulin Receptor in the Endosomes

1 reference

12 December 2020

Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms

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12 December 2020

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

1 reference

12 December 2020

Noninvasive liquid diet delivery of stable isotopes into mouse models for deep metabolic network tracing.

1 reference

12 December 2020

Thiamine preserves mitochondrial function in a rat model of traumatic brain injury, preventing inactivation of the 2-oxoglutarate dehydrogenase complex

1 reference

12 December 2020