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PCCA gene
Known as:
propionyl-CoA carboxylase alpha subunit
, pccA COMPLEMENTATION GROUP
, PCCA
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National Institutes of Health
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Related topics
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1 relation
Broader (1)
Genes
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Natural history of propionic acidemia.
L. Pena
,
Jill Franks
,
+14 authors
Marshall L. Summar
Molecular Genetics and Metabolism
2012
Corpus ID: 22207690
Highly Cited
2008
Highly Cited
2008
Enabling Thermoreversible Physically Cross-Linked Polymerized Colloidal Array Photonic Crystals.
S. Asher
,
K. W. Kimble
,
Jeremy P. Walker
Chemistry of Materials
2008
Corpus ID: 24939678
We physically cross-linked a thermoreversible poly(vinyl alcohol) (PVA) hydrogel (TG) within a crystalline colloidal array (CCA…
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Highly Cited
2007
Highly Cited
2007
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA.
Ana Rincón
,
C. Aguado
,
L. Desviat
,
R. Sánchez‐Alcudia
,
M. Ugarte
,
B. Pérez
American Journal of Human Genetics
2007
Corpus ID: 21968491
We describe the use of antisense morpholino oligonucleotides (AMOs) to restore normal splicing caused by intronic molecular…
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Review
2004
Review
2004
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
L. Desviat
,
B. Pérez
,
C. Pérez‐Cerdá
,
P. Rodríguez-Pombo
,
S. Clavero
,
M. Ugarte
Molecular Genetics and Metabolism
2004
Corpus ID: 27419180
Highly Cited
2003
Highly Cited
2003
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Belén Pérez
,
L. Desviat
,
+4 authors
M. Ugarte
Molecular Genetics and Metabolism
2003
Corpus ID: 45465296
Highly Cited
2003
Highly Cited
2003
Photonic crystal optrode sensor for detection of Pb2+ in high ionic strength environments.
Chad E. Reese
,
S. Asher
Analytical Chemistry
2003
Corpus ID: 39121256
We developed an optrode sensing device that utilizes a polymerized colloidal array (PCCA) photonic crystal material. This array…
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Review
1999
Review
1999
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia
M. Ugarte
,
C. Pérez‐Cerdá
,
+7 authors
R. Gravel
Human Mutation
1999
Corpus ID: 37710112
Propionic acidemia is an inborn error of metabolism caused by a deficiency of propionyl‐CoA carboxylase, a heteropolymeric…
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1999
1999
Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.
E. Richard
,
L. Desviat
,
B. Pérez
,
C. Pérez‐Cerdá
,
M. Ugarte
Biochimica et Biophysica Acta
1999
Corpus ID: 20832021
1993
1993
Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts.
J. Stankovics
,
F. Ledley
American Journal of Human Genetics
1993
Corpus ID: 25024730
Propionyl CoA carboxylase (PPC) is a heteromeric enzyme composed of alpha subunits (PCCA) and beta (PCCB) subunits. We describe…
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Highly Cited
1986
Highly Cited
1986
Isolation of cDNA clones coding for the alpha and beta chains of human propionyl-CoA carboxylase: chromosomal assignments and DNA polymorphisms associated with PCCA and PCCB genes.
A. Lamhonwah
,
T. Barankiewicz
,
H. Willard
,
D. Mahuran
,
F. Quan
,
R. Gravel
Proceedings of the National Academy of Sciences…
1986
Corpus ID: 43089991
Propionyl-CoA carboxylase [PCC, propanoyl-CoA:carbon-dioxide ligase (ADP-forming), EC 6.4.1.3] is a biotin-dependent enzyme…
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