Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities-Reference-Cited by-同舟云学术

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities

Published:2023-08 Issue:4 Volume:139 Page:107630
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Wongkittichote Parith,Duque Lasio Maria Laura,Magistrati Martina,Pathak Sheel,Sample Brooke,Carvalho Daniel Rocha,Ortega Adriana Banzzatto,Castro Matheus Augusto Araújo,de Gusmao Claudio M.,Toler Tomi L.,Bellacchio Emanuele,Dallabona Cristina,Shinawi Marwan

Funder

Ministero dell’Istruzione, dell’Università e della Ricerca

Publisher

Elsevier BV

Subject

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

Reference42 articles.

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4. A mutation in Para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency;Quinzii;Am. J. Hum. Genet.,2006

5. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement;Diomedi-Camassei;J. Am. Soc. Nephrol.,2007

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1. Understanding coenzyme Q;Physiological Reviews;2024-10-01

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4. Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders;European Journal of Human Genetics;2024-05-03

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