Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
about
Mitochondrial geneticsThe National Institutes of Health undiagnosed diseases programWhat we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseasesMitochondrial protein quality control: the mechanisms guarding mitochondrial healthSpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsPurkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 modelATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.Control of mitochondrial integrity in ageing and diseaseNovel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.Multifunctional Mitochondrial AAA ProteasesAlternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum.Loss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation.Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.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.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.Detecting false-positive signals in exome sequencingThe use of next-generation sequencing in movement disordersMicroarray-based capture of novel expressed cell type-specific transfrags (CoNECT) to annotate tissue-specific transcription in Drosophila melanogaster.Respiratory 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.Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration.Loss of Drosophila i-AAA protease, dYME1L, causes abnormal mitochondria and apoptotic degeneration.Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered proteaseDiagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Caveolin-1 controls mitochondrial function through regulation of m-AAA mitochondrial proteaseConsensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Next-generation sequencing for mitochondrial disordersMitochondrial quality control: a matter of life and death for neurons.The inherited ataxias: genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics.Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.Exome sequencing greatly expedites the progressive research of Mendelian diseases.
P2860
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P2860
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases
description
2011 nî lūn-bûn
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2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
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2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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name
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@ast
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@en
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@en-gb
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@nl
type
label
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@ast
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@en
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@en-gb
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@nl
altLabel
Whole-Exome Sequencing Identif ...... Mitochondrial m-AAA Proteases
@en
prefLabel
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@ast
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@en
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@en-gb
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@nl
P2093
P2860
P3181
P1433
P1476
Whole-exome sequencing identif ...... mitochondrial m-AAA proteases
@en
P2093
Camilo Toro
Craig Blackstone
Cynthia Tifft
David Adams
Florian Bonn
Gretchen Golas
James C Mullikin For The Nisc Comparative Sequencing Program
Jamie K Teer
Justin Kwan
Karin Fuentes Fajardo
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1002325
P407
P577
2011-10-01T00:00:00Z