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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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alpha-MPP

Papers overview

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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… Expand
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2018
2018
TDP-43 interacts with mitochondrial proteins critical for mitophagy and mitochondrial dynamics
Transactive response DNA-binding protein of 43 kDa (TDP-43) functions as a heterogeneous nuclear ribonucleoprotein and is the… Expand
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2017
2017
Challenges Facing Organizational Leaders: A Phenomenological Study of Nigerian Organizational Leaders
Challenging Organizational Leaders: A Phenomenological Study of Nigerian Organizational Leaders Adesina Olufemi Adegunle MPP… Expand
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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… Expand
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2016
2016
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
 
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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… Expand
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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… Expand
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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… Expand
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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… Expand
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2012
2012
Kepimpinan MPP seiring wawasan universiti
KUALALUMPUR 9 Sept.- Kepimpinan Majlis Perwakilan Pelajar " (MPP) yang sentiasa memperjuangkan isu-isu ke arah mengembangkan… Expand
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