Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
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Identification of human proteins that modify misfolding and proteotoxicity of pathogenic ataxin-1Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesAutosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristicsLoss of mitochondrial protease OMA1 alters processing of the GTPase OPA1 and causes obesity and defective thermogenesis in miceMitochondrial protein quality control: the mechanisms guarding mitochondrial healthYME1L degradation reduces mitochondrial proteolytic capacity during oxidative stressStAR enhances transcription of genes encoding the mitochondrial proteases involved in its own degradationPurkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 modelMouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.Recent Insights into the Role of Unfolded Protein Response in ER Stress in Health and Disease.Control of mitochondrial integrity in ageing and diseaseMultifunctional Mitochondrial AAA ProteasesThe National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Modifiers of mutant huntingtin aggregation: functional conservation of C. elegans-modifiers of polyglutamine aggregation.TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.Brain pathology of spinocerebellar ataxias.Defective mitochondrial mRNA maturation is associated with spastic ataxiaLoss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation.Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.SPG7 mutations are a common cause of undiagnosed ataxiaFrom cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypesA review of 18p deletions.Electron cryomicroscopy structure of a membrane-anchored mitochondrial AAA protease.Too many numbers and complexity: time to update the classifications of neurogenetic disorders?Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies.Spectrum of combined respiratory chain defects.Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitmentThe use of next-generation sequencing in movement disordersMatrix proteases in mitochondrial DNA function.Mitochondria: the next (neurode)generationRespiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentationMitochondrial ribosome assembly in health and diseaseThe Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val MutationSpastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
P2860
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P2860
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
description
2010 nî lūn-bûn
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2010 թուականի Մարտին հրատարակուած գիտական յօդուած
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2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@ast
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@en
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@nl
type
label
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@ast
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@en
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@nl
prefLabel
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@ast
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@en
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@nl
P2093
P50
P356
P1433
P1476
Mutations in the mitochondrial ...... inant hereditary ataxia SCA28.
@en
P2093
Alessandro Brussino
Caterina Mariotti
Claudia Cagnoli
Florian Bonn
Franco Taroni
Giorgio Battaglia
Marina Frontali
Massimo Plumari
Silvia Baratta
Stefano Di Donato
P2888
P304
P356
10.1038/NG.544
P407
P50
P577
2010-03-07T00:00:00Z