ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

TMEM70 deficiency: long-term outcome of 48 patients

(2014) Martin Magner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients

(2013) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Acetyl-l-carnitine and lipoic acid improve mitochondrial abnormalities and serum levels of liver enzymes in a mouse model of nonalcoholic fatty liver disease

(2013) Elango Kathirvel et al.   NUTRITION RESEARCH

Mitochondria and Mitophagy

(2012) Dieter A. Kubli et al.   CIRCULATION RESEARCH

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis

(2012) Alessandra Torraco et al.   NEUROGENETICS

Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology

(2011) An I. Jonckheere et al.   MITOCHONDRION

Expression and processing of the TMEM70 protein

(2010) Kateřina Hejzlarová et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

(2010) Ute Spiekerkoetter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

(2010) R. Spiegel et al.   JOURNAL OF MEDICAL GENETICS

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

(2010) Jessie M. Cameron et al.   MITOCHONDRION

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70

(2010) Oleg A. Shchelochkov et al.   MOLECULAR GENETICS AND METABOLISM

A role for mitochondria in NLRP3 inflammasome activation

(2010) Rongbin Zhou et al.   NATURE

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS

Loss of PINK1 causes mitochondrial functional defects and increased sensitivity to oxidative stress

(2008) C. A. Gautier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA