SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

scientific article

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/BRAIN/AWX369
P932PMC publication ID5837310
P698PubMed publication ID29351582

P50authorStephan ZüchnerQ30500867
Michael ShyQ59554732
Claudia P PereiraQ64793905
P2093author name stringEric A Schon
Hua Yang
Amjad Farooq
Carlos T Moraes
Dimah Saade
Adriana P Rebelo
Lisa Abreu
Tyler C Huff
Diana Mnatsakanova
Kathy Mathews
P2860cites workFatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly geneQ22010737
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.Q24534480
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1Q24534961
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyQ24632623
A structural characterization of human SCO2Q27648088
Comparative protein structure modeling of genes and genomesQ27860712
Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal OmegaQ27860809
Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" proteinQ27936222
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseQ28118095
Human Sco1 and Sco2 function as copper-binding proteinsQ28266498
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidaseQ28269687
The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasisQ28280598
ATP7A-related copper transport diseases-emerging concepts and future trendsQ28302938
Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2Q28589741
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2AQ29616547
Lack of neuropathy-related phenotypes in hint1 knockout mice.Q33901811
Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic coreQ34220248
Cytochrome oxidase in health and disease.Q34594190
Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasisQ37112824
Characterization of the mitofusin 2 R94W mutation in a knock-in mouse modelQ39186332
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysisQ41875907
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.Q43920593
Motor neuron disease associated with copper deficiencyQ80160555
A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiencyQ84823970
P4510describes a project that usesImageJQ1659584
P407language of work or nameEnglishQ1860
P577publication date2018-01-16
P1433published inBrainQ897386
P1476titleSCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

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cites work (P2860)
Q92087519COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase
Q92028567Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy
Q91955757Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans
Q90124366Genetic modifiers and non-Mendelian aspects of CMT
Q57175222Human diseases associated with defects in assembly of OXPHOS complexes
Q92858579Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
Q90468146Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges
Q90704832Vitamin C regulates Schwann cell myelination by promoting DNA demethylation of pro-myelinating genes

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