Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
about
Function Over Form: Modeling Groups of Inherited Neurological Conditions in ZebrafishA neurodegenerative perspective on mitochondrial optic neuropathiesMitochondrial lipids in neurodegenerationBovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.Novel insights into SLC25A46-related pathologies in a genetic mouse modelRecurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.Of yeast, mice and men: MAMs come in two flavors.Mic60/mitofilin overexpression alters mitochondrial dynamics and attenuates vulnerability of dopaminergic cells to dopamine and rotenone.Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondriaMitochondrial Membrane Dynamics and Inherited Optic Neuropathies.SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome.Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.Role of Cardiolipin in Mitochondrial Signaling PathwaysAn overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.The First Mitochondrial Genomics and Evolution SMBE-Satellite Meeting: A New Scientific Symbiosis.Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice.Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.Regulation of Mitochondrial Dynamics by Proteolytic Processing and Protein Turnover.Spatial patterning of excitatory and inhibitory neuropil territories during spinal circuit development.Novel pathogenic SLC25A46 splice-site mutation causes an optic atrophy spectrum disorder.Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination
P2860
Q26741616-1A507278-392B-4703-A1DE-A230BB1892B4Q28072026-B4682E65-D7A6-49CD-8F85-33A3A6A5AE12Q28397548-B7FE57FA-2382-493C-8230-8FE2FA930A29Q36333997-E106742A-A5A5-45B1-A83E-400AB6B7423EQ36334004-FB549FB1-50EB-47EB-879E-0E6230D967BDQ37342031-845EEA87-78B4-4AAD-B6D4-49CD9A5AD588Q37607813-671CDB9D-6644-4B8C-AD93-662D55EA4BDAQ37631968-42CF3212-0947-47C5-A877-1D6F4E104CD4Q37669943-31113A7B-E919-449E-90E3-C1C991FAB045Q39399568-7DB6E7F9-F3EC-4A99-BA25-D3BBE02DCE46Q41005806-38435E51-E354-4DA6-809C-318D366C8EB7Q41926699-C67A3EB1-709F-42B5-8C09-ECFCE44A6C61Q42369764-C8350486-5E9D-4234-9420-F8ACB78E1223Q46003433-886DA87F-5821-43AF-AAF6-90FD141D6E23Q46268175-73F68ED8-95F6-49D7-B4AE-7BCF3473983CQ46815739-415DF8E1-43A5-4F55-AA9B-CEE2D779EC6FQ47249910-F2C348B2-7080-40E7-A8E8-9ED71C77E12FQ47850617-9B9B304E-3610-4887-9C62-36C5AA913023Q48335394-2A4F941E-A1D3-4D69-8680-CABF4063E302Q49625368-3BE1107D-7D93-4A16-8E6F-4878DF1331FDQ50468221-0999D097-1052-490F-A320-F3E97691BAA9Q50529218-BAC6AADF-BA6B-49EA-BF6D-DB27D74FD7A3Q51764886-F97D6938-4F64-4670-997A-BA2E3D4584C1Q51819259-F983DFFD-D9C4-4FFF-820E-B00515A89EFFQ52090739-352DEE10-B438-4A74-92A8-7E6A9D18835AQ58806004-AB8F0184-6359-4CCC-A631-9D43F909B665
P2860
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
description
2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2015
@ast
im August 2015 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2015/08/01)
@sk
vědecký článek publikovaný v roce 2015
@cs
wetenschappelijk artikel (gepubliceerd op 2015/08/01)
@nl
наукова стаття, опублікована в серпні 2015
@uk
name
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@ast
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@en
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@nl
type
label
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@ast
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@en
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@nl
prefLabel
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@ast
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@en
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations in SLC25A46, encodin ...... ptic atrophy spectrum disorder
@en
P2093
Adriana Rebelo
Alexander J Abrams
Alleene V Strickland
Andrea H Németh
Anthony Antonellis
Antonio Barrientos
Claudia Zanna
Cynthia A Prows
Elizabeth K Schorry
Feifei Tao
P2860
P2888
P304
P3181
P356
10.1038/NG.3354
P407
P50
P577
2015-08-01T00:00:00Z