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List of works by Luke E Formosa

A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS Capacity

scientific article published on 29 July 2015

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

article

Accessory subunits are integral for assembly and function of human mitochondrial complex I.

scientific article

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

scientific article published on 29 June 2016

Building a complex complex: Assembly of mitochondrial respiratory chain complex I.

scientific article

Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I

scientific article

Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly Complex Factors in the Biogenesis of Complex I

scientific article published on 01 April 2020

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I

scientific article published on 5 December 2012

Metabolic characteristics of CD8+ T cell subsets in young and aged individuals are not predictive of functionality

scientific article published on 05 June 2020

Mitochondrial OXPHOS complex assembly lines

scientific article published on 16 April 2018

Mitochondrial fusion: Reaching the end of mitofusin's tether

scientific article

Preservation of skeletal muscle mitochondrial content in older adults: relationship between mitochondria, fibre type and high-intensity exercise training.

scientific article published in March 2017

Publisher Correction: Metabolic characteristics of CD8+ T cell subsets in young and aged individuals are not predictive of functionality

scientific article published on 09 July 2020

The 'mitochondrial contact site and cristae organising system' (MICOS) in health and human disease

scientific article published on 01 March 2020

The Mitochondrial Acyl-carrier Protein Interaction Network Highlights Important Roles for LYRM Family Members in Complex I and Mitoribosome Assembly

scientific article published on 30 October 2019

Translation and Assembly of Radiolabeled Mitochondrial DNA-Encoded Protein Subunits from Cultured Cells and Isolated Mitochondria

scientific article

mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

article

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