Literature DB >> 29625026

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Nicole J Lake, Bryn D Webb, David A Stroud, Tara R Richman, Benedetta Ruzzenente, Alison G Compton, Hayley S Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio, Nathalie Boddaert, Zahra Assouline, Mingma D Sherpa, Eric E Schadt, Sander M Houten, James Byrnes, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Katrina Haude, Zhancheng Zhang, Kyle Retterer, Renkui Bai, Sarah E Calvo, Vamsi K Mootha, John Christodoulou, Agnes Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J Falk, Metodi D Metodiev, David R Thorburn.   

Abstract

Entities:  

Year:  2018        PMID： 29625026      PMCID： PMC5985357          DOI： 10.1016/j.ajhg.2018.03.015

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  7 in total

1.  Mitoribosomal defects aggravate liver cancer via aberrant glycolytic flux and T cell exhaustion.

Authors:  Byong-Sop Song; Ji Sun Moon; Jingwen Tian; Ho Yeop Lee; Byeong Chang Sim; Seok-Hwan Kim; Seul Gi Kang; Jung Tae Kim; Ha Thi Nga; Rui Benfeitas; Yeongmin Kim; Sanghee Park; Robert R Wolfe; Hyuk Soo Eun; Minho Shong; Sunjae Lee; Il-Young Kim; Hyon-Seung Yi
Journal:  J Immunother Cancer       Date:  2022-05       Impact factor: 12.469

Review 2.  The road to the structure of the mitochondrial respiratory chain supercomplex.

Authors:  Nikeisha J Caruana; David A Stroud
Journal:  Biochem Soc Trans       Date:  2020-04-29       Impact factor: 5.407

3.  Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

Authors:  Delia Apatean; Bojana Rakic; Catherine Brunel-Guitton; Glenda Hendson; Renkui Bai; Michael A Sargent; Pascal M Lavoie; Millan Patel; Sylvia Stockler-Ipsiroglu
Journal:  Mol Genet Metab Rep       Date:  2019-01-18

4.  Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

Authors:  Delia Apatean; Bojana Rakic; Catherine Brunel-Guitton; Glenda Hendson; Renkui Bai; Michael A Sargent; Pascal M Lavoie; Millan Patel; Sylvia Stockler-Ipsiroglu
Journal:  Mol Genet Metab Rep       Date:  2019-04-30

Review 5.  Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease.

Authors:  Fei Wang; Deyu Zhang; Dejiu Zhang; Peifeng Li; Yanyan Gao
Journal:  Front Cell Dev Biol       Date:  2021-07-01

Review 6.  How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data.

Authors:  Lea D Schlieben; Holger Prokisch; Vicente A Yépez
Journal:  Front Mol Biosci       Date:  2021-06-01

7.  Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.

Authors:  Nicole J Van Bergen; Daniella H Hock; Lucy Spencer; Sean Massey; Tegan Stait; Zornitza Stark; Sebastian Lunke; Ain Roesley; Heidi Peters; Joy Yaplito Lee; Anna Le Fevre; Oliver Heath; Cristina Mignone; Joseph Yuan-Mou Yang; Monique M Ryan; Colleen D'Arcy; Margot Nash; Sile Smith; Nikeisha J Caruana; David R Thorburn; David A Stroud; Susan M White; John Christodoulou; Natasha J Brown
Journal:  Int J Mol Sci       Date:  2022-01-17       Impact factor: 5.923
  7 in total

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