Mechanism of neuromuscular dysfunction in Krabbe disease. (Q35020269)

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29 February 2020

title

Mechanism of neuromuscular dysfunction in Krabbe disease (English)

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1

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Michael S Marshall

3

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Ludovic D'Auria

5

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Guannan Li

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Kelly Garcia

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Richard van Breemen

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29 February 2020

author name string

Erick Maravilla

2

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29 February 2020

Tammy Tamayo

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John Monge

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James Jeffries

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29 February 2020

Tuba Sural-Fehr

8

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Aurora Lopez-Rosas

9

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Charles Vite

13

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Jesus Garcia

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Ernesto R Bongarzone

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language of work or name

English

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publication date

1 January 2015

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29 February 2020

published in

Journal of Neuroscience

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volume

35

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issue

4

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29 February 2020

page(s)

1606-1616

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Quantal Analysis of Endplate Potentials in Mouse Flexor Digitorum Brevis Muscle

29 February 2020

cites work

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Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease

8 July 2018

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Neuronal inclusions of α-synuclein contribute to the pathogenesis of Krabbe disease.

8 July 2018

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The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3β and deregulation of molecular motors

8 July 2018

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Region- and age-dependent alterations of glial-neuronal metabolic interactions correlate with CNS pathology in a mouse model of globoid cell leukodystrophy.

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Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases

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Peripheral Neuropathy in the Twitcher Mouse Involves the Activation of Axonal Caspase 3

8 July 2018

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Bone marrow transplantation augments the effect of brain- and spinal cord-directed adeno-associated virus 2/5 gene therapy by altering inflammation in the murine model of globoid-cell leukodystrophy

8 July 2018

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Caspase-3 activation via mitochondria is required for long-term depression and AMPA receptor internalization.

8 July 2018

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Psychosine accumulates in membrane microdomains in the brain of krabbe patients, disrupting the raft architecture.

8 July 2018

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Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy

8 July 2018

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Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice

8 July 2018

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Development of the neuromuscular junction

8 July 2018

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Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1.

8 July 2018

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Muscle-fiber apoptosis in neuromuscular diseases

8 July 2018

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Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

8 July 2018

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Conditional activation of akt in adult skeletal muscle induces rapid hypertrophy

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Glycogen synthase kinase 3beta (GSK3beta) mediates 6-hydroxydopamine-induced neuronal death

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The IGF-1/PI3K/Akt pathway prevents expression of muscle atrophy-induced ubiquitin ligases by inhibiting FOXO transcription factors

8 July 2018

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Foxo transcription factors induce the atrophy-related ubiquitin ligase atrogin-1 and cause skeletal muscle atrophy

8 July 2018

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Globoid Cell Leukodystrophy (Krabbe's Disease): Update

8 July 2018

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8 July 2018

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Signalling pathways that mediate skeletal muscle hypertrophy and atrophy

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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Association of Krabbe leukodystrophy and congenital fiber type disproportion

8 July 2018

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Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease

8 July 2018

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Acetylcholine receptor gene expression at the developing neuromuscular junction

8 July 2018

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Progressive accumulation of toxic metabolite in a genetic leukodystrophy

8 July 2018

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Cerebrosides and psychosine disrupt mitochondrial functions

8 July 2018

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Nerve conduction studies in the Twitcher mouse (murine globoid cell leukodystrophy).

8 July 2018

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The twitcher mouse: accumulation of galactosylsphingosine and pathology of the sciatic nerve.

8 July 2018

1 reference

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Different mechanisms regulate muscle-specific AChR gamma- and epsilon-subunit gene expression

8 July 2018

1 reference

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Involvement of the proteasome and caspase activation in hippocampal long-term depression induced by the serine protease subtilisin

8 July 2018

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Muscle atrophy induced by SOD1G93A expression does not involve the activation of caspase in the absence of denervation

25 October 2018

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Aβ(1-42) inhibition of LTP is mediated by a signaling pathway involving caspase-3, Akt1 and GSK-3β.

25 October 2018

1 reference

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Axonopathy is a compounding factor in the pathogenesis of Krabbe disease.

25 October 2018

1 reference

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Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease.

25 October 2018

1 reference

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Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway

25 October 2018

1 reference

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Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation

25 October 2018

1 reference

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Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease

25 October 2018

1 reference

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Myelin deterioration in Twitcher mice: motor evoked potentials and magnetic resonance imaging as in vivo monitoring tools

25 October 2018

1 reference

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Akt2 is essential for the full effect of calorie restriction on insulin-stimulated glucose uptake in skeletal muscle

25 October 2018

1 reference

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Impaired expression and insulin-stimulated phosphorylation of Akt-2 in muscle of obese patients with atypical diabetes

25 October 2018

1 reference

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Focal caspase activation underlies the endplate myopathy in slow-channel syndrome

25 October 2018

1 reference

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Apoptotic changes in the aged brain are triggered by interleukin-1beta-induced activation of p38 and reversed by treatment with eicosapentaenoic acid

25 October 2018

1 reference

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Activated caspase-3 expression in Alzheimer's and aged control brain: correlation with Alzheimer pathology

25 October 2018

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Differential effect of gabapentin on neuronal and muscle calcium currents.

25 October 2018

1 reference

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Dynamic concentration of motors in microtubule arrays

25 October 2018

1 reference

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1-(13)C glucose magnetic resonance spectroscopy of pediatric and adult brain disorders

25 October 2018

1 reference

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High-resolution fluorodeoxyglucose positron emission tomography shows both global and regional cerebral hypometabolism in multiple sclerosis

25 October 2018

1 reference

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The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease)

25 October 2018

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12 December 2020

Motor unit behavior in canine motor neuron disease

1 reference

12 December 2020

Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model

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12 December 2020

Peripheral neuropathy in the Twitcher mutant. A new experimental model of endoneurial edema

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12 December 2020

Demyelination in the spinal cord of murine globoid cell leukodystrophy (the twitcher mouse)

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12 December 2020

Congenital Muscle Fiber-Type Disproportion in Krabbe's Leukodystrophy

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12 December 2020

Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease

1 reference

12 December 2020

Akt signalling through GSK-3beta, mTOR and Foxo1 is involved in human skeletal muscle hypertrophy and atrophy

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12 December 2020

Spacio-temporal progression of demyelination in twitcher mouse: with clinico-pathological correlation

1 reference

12 December 2020

Functional motor unit failure precedes neuromuscular degeneration in canine motor neuron disease

1 reference

12 December 2020

Is congenital fibre type disproportion a true myopathy?

1 reference

12 December 2020

Hereditary leucodystrophy in the mouse: the new mutant twitcher

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12 December 2020

Pathology of the peripheral nerve in the twitcher mouse following bone marrow transplantation

1 reference

12 December 2020

Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy

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12 December 2020

10.1523/JNEUROSCI.2431-14.2015

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25632136 AND SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25632136 AND SRC:MED&resulttype=core&format=json

29 February 2020

PubMed publication ID

25632136

1 reference