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PMPCA gene

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

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Related topics

1 relation
alpha-MPP

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders
A 7-year-old boy was referred at age 24 months with failure to thrive, global psychomotor delay, and spastic-ataxic gait with… 
Highly Cited
2018
Highly Cited
2018
TDP-43 interacts with mitochondrial proteins critical for mitophagy and mitochondrial dynamics
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… 
2016
2016
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Sir, Recently, Jobling et al. (2015) reported the identification of mutations in PMPCA in 17 patients from four families affected… 
2016
2016
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Sir, Recently, Jobling et al. (2015) reported the identification of mutations in PMPCA in 17 patients from four families… 
Review
2016
Review
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… 
Highly Cited
2015
Highly Cited
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… 
2015
2015
Nuclear-mitochondrial proteins: too much to process?
This scientific commentary refers to ‘ PMPCA mutations cause abnormal mitochondrial protein processing in patients with non… 
2013
2013
Aplikasi Sobek Untuk Simulasi Kegagalan Tanggul Laut: Studi Kasus Pluit-Jakarta
Pluit terletak di pantai utara Jakarta, dan secara topografis areanya berada di bawah permukaan air laut. Hal ini menyebabkan… 
2012
2012
Kepimpinan MPP seiring wawasan universiti
KUALALUMPUR 9 Sept.- Kepimpinan Majlis Perwakilan Pelajar " (MPP) yang sentiasa memperjuangkan isu-isu ke arah mengembangkan… 
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