Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia-Reference-Cited by-同舟云学术

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Structure of the PCCA Gene and Distribution of Mutations Causing Propionic Acidemia

Published:2001-09 Issue:1-2 Volume:74 Page:238-247
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Campeau Eric,Desviat Lourdes R.,Leclerc Daniel,Wu Xuchu,Pérez Belén,Ugarte Magdalena,Gravel Roy A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Disorders of propionate and methylmalonate metabolism;Fenton,2001

2. Isolation and characterization of propionyl-CoA carboxylase from normal human liver;Kalousek;J Biol Chem,1980

3. Purification of human liver propionyl-CoA carboxylase by carbon tetrachloride extraction and monomeric avidin affinity chromatography;Gravel;Arch Biochem Biophys,1980

4. Chaperonin-mediated assembly of wild-type and mutant subunits of human propionyl-CoA carboxylase expressed in Escherichia coli;Kelson;Hum Mol Genet,1996

5. Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: Expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli;Chloupkova;Mol Genet Metab,2000

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Late-onset propionic acidemia with epilepsy due to compound heterozygous variants in the PCCB gene: a case report and literature review;2024-03-25

2. Clinical Characteristics and Genetic Analysis of a Case of Neonatal Early-Onset Propionate Acidemia and Literature Review;Advances in Clinical Medicine;2023

3. Neuropathological report of propionic acidemia;Neuropathology;2022-09-14

4. Case Report: Novel Mutations in the PCCB Gene Causing Late-Onset Propionic Acidemia;Frontiers in Genetics;2022-03-17

5. Novel variants of the PCCB gene in Chinese patients with propionic acidemia;Clinica Chimica Acta;2021-08

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