Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy-Reference-Cited by-同舟云学术

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Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

Published:2013-01-12 Issue:3 Volume:50 Page:151-159
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Carroll Christopher J,Isohanni Pirjo,Pöyhönen Rosanna,Euro Liliya,Richter Uwe,Brilhante Virginia,Götz Alexandra,Lahtinen Taina,Paetau Anders,Pihko Helena,Battersby Brendan J,Tyynismaa Henna,Suomalainen Anu

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 86 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. Importance of conserved hydrophobic pocket region in yeast mitoribosomal mL44 protein for mitotranslation and transcript preference;Journal of Biological Chemistry;2024-08

2. A roadmap for ribosome assembly in human mitochondria;Nature Structural & Molecular Biology;2024-07-11

3. Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation;iScience;2024-07

4. Integrating Clinical Phenotype With Multiomics Analyses of Human Cardiac Tissue Unveils Divergent Metabolic Remodeling in Genotype-Positive and Genotype-Negative Patients With Hypertrophic Cardiomyopathy;Circulation: Genomic and Precision Medicine;2024-06

5. Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis;Frontiers in Cell and Developmental Biology;2024-05-24

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