Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay

TOM70 Sustains Cell Bioenergetics by Promoting IP3R3-Mediated ER to Mitochondria Ca 2+ Transfer

(2018) Riccardo Filadi et al.   CURRENT BIOLOGY

mtDNA Haplogroup N9a Increases the Risk of Type 2 Diabetes by Altering Mitochondrial Function and Intracellular Mitochondrial Signals

(2018) Hezhi Fang et al.   DIABETES

SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences

(2018) Yuanyuan Li et al.   GENE

Tom70 enhances mitochondrial preprotein import efficiency by binding to internal targeting sequences

(2018) Sandra Backes et al.   JOURNAL OF CELL BIOLOGY

Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions

(2018) Aurelio Reyes et al.   EMBO Molecular Medicine

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

(2018) Kyle Thompson et al.   EMBO Molecular Medicine

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology

(2017) Ann E. Frazier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria

(2017) Milena Vukotic et al.   MOLECULAR CELL

Tim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stability

(2016) Yilin Kang et al.   eLife

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease

(2015) Kevin A. Strauss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency

(2013) Sara Cogliati et al.   CELL

Tom70 Is Essential for PINK1 Import into Mitochondria

(2013) Hiroki Kato et al.   PLoS One

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

(2012) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biogenesis of mitochondrial carrier proteins: Molecular mechanisms of import into mitochondria

(2012) Alessandra Ferramosca et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

Interaction between the Human Mitochondrial Import Receptors Tom20 and Tom70in VitroSuggests a Chaperone Displacement Mechanism

(2011) Anna C. Y. Fan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Human mitochondrial import receptor Tom70 functions as a monomer

(2010) Anna C. Y. Fan et al.   BIOCHEMICAL JOURNAL

Importing Mitochondrial Proteins: Machineries and Mechanisms

(2009) Agnieszka Chacinska et al.   CELL