Pages that link to "Q28117097"
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The following pages link to Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder (Q28117097):
Displaying 50 items.
- Solute carrier family 25 member 46 (Q21103093) (← links)
- Inner membrane mitochondrial protein (Q21114803) (← links)
- Charcot-Marie-Tooth disease type 6 (Q21124580) (← links)
- Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish (Q26741616) (← links)
- A neurodegenerative perspective on mitochondrial optic neuropathies (Q28072026) (← links)
- Mitochondrial lipids in neurodegeneration (Q28397548) (← links)
- Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health (Q36333997) (← links)
- Novel insights into SLC25A46-related pathologies in a genetic mouse model (Q36334004) (← links)
- Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes (Q37342031) (← links)
- Of yeast, mice and men: MAMs come in two flavors. (Q37607813) (← links)
- Mic60/mitofilin overexpression alters mitochondrial dynamics and attenuates vulnerability of dopaminergic cells to dopamine and rotenone (Q37631968) (← links)
- Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria (Q37669943) (← links)
- Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies (Q39399568) (← links)
- SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome (Q41005806) (← links)
- Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy (Q41926699) (← links)
- Role of Cardiolipin in Mitochondrial Signaling Pathways (Q42369764) (← links)
- An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. (Q46003433) (← links)
- The First Mitochondrial Genomics and Evolution SMBE-Satellite Meeting: A New Scientific Symbiosis (Q46268175) (← links)
- Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. (Q46815739) (← links)
- Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice. (Q47249910) (← links)
- Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. (Q47850617) (← links)
- A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy. (Q48335394) (← links)
- Regulation of Mitochondrial Dynamics by Proteolytic Processing and Protein Turnover (Q49625368) (← links)
- Spatial patterning of excitatory and inhibitory neuropil territories during spinal circuit development (Q50468221) (← links)
- Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder (Q50529218) (← links)
- Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease (Q51764886) (← links)
- SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families (Q51819259) (← links)
- Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family (Q52090739) (← links)
- 'Inside Out': a dialogue between mitochondria and bacteria (Q58614051) (← links)
- Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination (Q58806004) (← links)
- Recent insights into the structure and function of Mitofusins in mitochondrial fusion (Q60927541) (← links)
- Emerging Roles in the Biogenesis of Cytochrome Oxidase for Members of the Mitochondrial Carrier Family (Q61805012) (← links)
- Intestinal dysmotility in a zebrafish () mutant model of autism (Q61805365) (← links)
- Potential Role of Mic60/Mitofilin in Parkinson's Disease (Q61809108) (← links)
- A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects (Q63386381) (← links)
- Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System. (Q64926601) (← links)
- Mitochondrial medicine in the omics era (Q89106395) (← links)
- Cristae undergo continuous cycles of membrane remodelling in a MICOS-dependent manner (Q89750223) (← links)
- Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan (Q90095321) (← links)
- SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder (Q90255315) (← links)
- Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome (Q90372624) (← links)
- Mitochondrial dynamics: overview of molecular mechanisms (Q90374857) (← links)
- Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease (Q90623287) (← links)
- Interplay of mitochondrial fission-fusion with cell cycle regulation: Possible impacts on stem cell and organismal aging (Q90709145) (← links)
- Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway (Q90718359) (← links)
- Insights into the genotype-phenotype correlation and molecular function of SLC25A46 (Q91279099) (← links)
- Metabolic, Anti-apoptotic and Immune Evasion Strategies of Primary Human Myeloma Cells Indicate Adaptations to Hypoxia (Q91814085) (← links)
- Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy (Q93042263) (← links)
- Functional Interplay between Cristae Biogenesis, Mitochondrial Dynamics and Mitochondrial DNA Integrity (Q93103041) (← links)
- Integrated analysis of the molecular pathogenesis of FDXR-associated disease (Q96135612) (← links)