FAQ

PMPCA gene

Known as: KIAA0123, peptidase, mitochondrial processing alpha subunit, MITOCHONDRIAL PROCESSING PEPTIDASE-ALPHA 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2015-2015
01220152015

Related topics

Related topics

1 relation
alpha-MPP

Related mentions per year

Related mentions per year

1994-2016
1990200020102020
PMPCA gene
alpha-MPP

Papers overview

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2016
2016
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
 
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2016
2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.
We describe a large Lebanese family with two affected members, a young female proband and her male cousin, who had multisystem… (More)
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2016
2016
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
1 Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada 2… (More)
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2016
2016
From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases
Mitochondrial disease is now recognized to represent a highly heterogeneous group of genetic disorders that impair energy… (More)
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2015
2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile… (More)
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2015
2015
Op-brai150057 1505..1517
Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile… (More)
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