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PMPCA gene
Known as:
KIAA0123
, peptidase, mitochondrial processing alpha subunit
, MITOCHONDRIAL PROCESSING PEPTIDASE-ALPHA
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National Institutes of Health
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Related topics
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. Rubegni
,
R. Pasquariello
,
+4 authors
C. Nesti
Neurology
2019
Corpus ID: 58539591
A 7-year-old boy was referred at age 24 months with failure to thrive, global psychomotor delay, and spastic-ataxic gait with…
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Highly Cited
2018
Highly Cited
2018
TDP-43 interacts with mitochondrial proteins critical for mitophagy and mitochondrial dynamics
Stephani A. Davis
,
S. Itaman
,
+4 authors
M. Gitcho
Neuroscience Letters
2018
Corpus ID: 13678487
2016
2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease
Mugdha A Joshi
,
I. Anselm
,
+11 authors
P. Agrawal
Cold Spring Harbor molecular case studies
2016
Corpus ID: 10398368
We describe a large Lebanese family with two affected members, a young female proband and her male cousin, who had multisystem…
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2016
2016
Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
Karine Choquet
,
Olga Zurita-Rendón
,
+7 authors
M. Tétreault
Brain : a journal of neurology
2016
Corpus ID: 37282100
Sir, Recently, Jobling et al. (2015) reported the identification of mutations in PMPCA in 17 patients from four families affected…
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2016
2016
Reply: Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
G. Yoon
,
V. Delague
,
A. Mégarbané
,
G. Isaya
Brain : a journal of neurology
2016
Corpus ID: 6156813
Sir, Recently, Jobling et al. (2015) reported the identification of mutations in PMPCA in 17 patients from four families…
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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
M. Falk
,
Lishuang Shen
,
X. Gai
Cold Spring Harbor molecular case studies
2016
Corpus ID: 27282097
Mitochondrial disease is now recognized to represent a highly heterogeneous group of genetic disorders that impair energy…
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Highly Cited
2015
Highly Cited
2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
R. Jobling
,
M. Assoum
,
+20 authors
G. Yoon
Brain : a journal of neurology
2015
Corpus ID: 18025833
Non-progressive cerebellar ataxias are a rare group of disorders that comprise approximately 10% of static infantile…
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2015
2015
Nuclear-mitochondrial proteins: too much to process?
R. Horvath
,
P. Chinnery
Brain : a journal of neurology
2015
Corpus ID: 3107708
This scientific commentary refers to ‘ PMPCA mutations cause abnormal mitochondrial protein processing in patients with non…
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2013
2013
Aplikasi Sobek Untuk Simulasi Kegagalan Tanggul Laut: Studi Kasus Pluit-Jakarta
Yudi Lasmana
,
Andojo Wurjanto
,
Hadi Kardhana
2013
Corpus ID: 192743352
Pluit terletak di pantai utara Jakarta, dan secara topografis areanya berada di bawah permukaan air laut. Hal ini menyebabkan…
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2012
2012
Kepimpinan MPP seiring wawasan universiti
Utusan Malaysia
2012
Corpus ID: 60063864
KUALALUMPUR 9 Sept.- Kepimpinan Majlis Perwakilan Pelajar " (MPP) yang sentiasa memperjuangkan isu-isu ke arah mengembangkan…
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