Mitochondrial diseases caused by dysfunctional mitochondrial protein import

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

(2018) F.-Nora Vögtle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin

(2018) G. Heimer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mitochondrial protein transport in health and disease

(2018) Yilin Kang et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes

(2017) B. Hu et al.   EUROPEAN JOURNAL OF NEUROLOGY

Augmenter of liver regeneration: A fundamental life protein

(2017) Michael A. Nalesnik et al.   HEPATOLOGY

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

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

Mutation in the AGK gene in two siblings with unusual Sengers syndrome

(2017) Sanae Allali et al.   METABOLIC BRAIN DISEASE

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex

(2017) Yilin Kang et al.   MOLECULAR CELL

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

(2017) Milena Vukotic et al.   MOLECULAR CELL

A novel homozygousPAM16mutation in a patient with a milder phenotype and longer survival

(2016) Shahida Moosa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The TIM23 mitochondrial protein import complex: function and dysfunction

(2016) Keren Demishtein-Zohary et al.   CELL AND TISSUE RESEARCH

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated withTIMM50mutations

(2016) M.A. Shahrour et al.   CLINICAL GENETICS

Spondyloepimetaphyseal dysplasia with neurodegeneration associated withAIFM1mutation - a novel phenotype of the mitochondrial disease

(2016) H. Mierzewska et al.   CLINICAL GENETICS

TIM29 is a subunit of the human carrier translocase required for protein transport

(2016) Sylvie Callegari et al.   FEBS LETTERS

Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase

(2016) Devanjan Sinha et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome

(2016) Amal Al Teneiji et al.   PEDIATRIC NEUROLOGY

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

(2016) Mohammad K. Eldomery et al.   Genome Medicine

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

Autosomal recessive cerebellar ataxia caused by a homozygous mutation inPMPCA

(2015) Karine Choquet et al.   BRAIN

PMPCAmutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia

(2015) Rebekah K. Jobling et al.   BRAIN

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

(2015) Daria Diodato et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sam37 is crucial for formation of the mitochondrial TOM–SAM supercomplex, thereby promoting β-barrel biogenesis

(2015) Lena-Sophie Wenz et al.   JOURNAL OF CELL BIOLOGY

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

(2015) Liang Zong et al.   JOURNAL OF MEDICAL GENETICS

From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1

(2015) Matthias Kettwig et al.   MITOCHONDRION

Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis

(2015) Emilie Hangen et al.   MOLECULAR CELL

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders

(2015) A. Ardissone et al.   NEUROLOGY

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Molecular architecture of the active mitochondrial protein gate

(2015) T. Shiota et al.   SCIENCE

Loss of apoptosis-inducing factor critically affects MIA40 function

(2015) K Meyer et al.   Cell Death & Disease

Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes

(2015) Ya-Wen Lu et al.   Frontiers in Genetics

A second family with autosomal recessive spondylometaphyseal dysplasia and early death

(2014) André Mégarbané et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The disease-associated mutation of the mitochondrial thiol oxidase Erv1 impairs cofactor binding during its catalytic reaction

(2014) Efrain Ceh-Pavia et al.   BIOCHEMICAL JOURNAL

DNAJC19, a Mitochondrial Cochaperone Associated with Cardiomyopathy, Forms a Complex with Prohibitins to Regulate Cardiolipin Remodeling

(2014) Ricarda Richter-Dennerlein et al.   Cell Metabolism

Mitochondrial protein translocases for survival and wellbeing

(2014) Anna Magdalena Sokol et al.   FEBS LETTERS

Mitochondrial transporters of the SLC25 family and associated diseases: a review

(2014) Ferdinando Palmieri   JOURNAL OF INHERITED METABOLIC DISEASE

Unraveling the Intricate Organization of Mammalian Mitochondrial Presequence Translocases: Existence of Multiple Translocases for Maintenance of Mitochondrial Function

(2014) D. Sinha et al.   MOLECULAR AND CELLULAR BIOLOGY

Acylglycerol kinase promotes cell proliferation and tumorigenicity in breast cancer via suppression of the FOXO1 transcription factor

(2014) Xi Wang et al.   Molecular Cancer

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

(2014) Alireza Haghighi et al.   Orphanet Journal of Rare Diseases

Mitochondria: from cell death executioners to regulators of cell differentiation

(2014) Atsuko Kasahara et al.   TRENDS IN CELL BIOLOGY

Chaperoning mitochondrial permeability transition: regulation of transition pore complex by a J-protein, DnaJC15

(2014) D Sinha et al.   Cell Death & Disease

Magmas functions as a ROS regulator and provides cytoprotection against oxidative stress-mediated damages

(2014) S Srivastava et al.   Cell Death & Disease

The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia

(2014) Cybel Mehawej et al.   PLoS Genetics

MCJ/DnaJC15, an Endogenous Mitochondrial Repressor of the Respiratory Chain That Controls Metabolic Alterations

(2013) K. M. Hatle et al.   MOLECULAR AND CELLULAR BIOLOGY

Protein import and oxidative folding in the mitochondrial intermembrane space of intact mammalian cells

(2013) Manuel Fischer et al.   MOLECULAR BIOLOGY OF THE CELL

Barth syndrome

(2013) Sarah LN Clarke et al.   Orphanet Journal of Rare Diseases

Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

(2012) Carlo Rinaldi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

MITRAC Links Mitochondrial Protein Translocation to Respiratory-Chain Assembly and Translational Regulation

(2012) David U. Mick et al.   CELL

Mitochondria: In Sickness and in Health

(2012) Jodi Nunnari et al.   CELL

Methylation-controlled J-protein MCJ acts in the import of proteins into human mitochondria

(2012) C. Schusdziarra et al.   HUMAN MOLECULAR GENETICS

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

(2012) Mohammed A. Aldahmesh et al.   HUMAN MUTATION

Mitochondrial citrate synthase crystals: Novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations

(2012) Komudi Siriwardena et al.   MOLECULAR GENETICS AND METABOLISM

New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia and male genital anomalies

(2012) Tiina Ojala et al.   PEDIATRIC RESEARCH

The Yeast Magmas Ortholog Pam16 Has an Essential Function in Fermentative Growth That Involves Sphingolipid Metabolism

(2012) Mary K. Short et al.   PLoS One

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

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

Disulfide Bond Formation: Sulfhydryl Oxidase ALR Controls Mitochondrial Biogenesis of Human MIA40

(2012) Malgorzata E. Sztolsztener et al.   TRAFFIC

Mechanisms of Protein Sorting in Mitochondria

(2012) D. Stojanovski et al.   Cold Spring Harbor Perspectives in Biology

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

(2011) Gertraud Engl et al.   HUMAN MOLECULAR GENETICS

Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing

(2011) Itai Berger et al.   MOLECULAR GENETICS AND METABOLISM

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

(2010) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Apoptosis-Inducing Factor: Structure, Function, and Redox Regulation

(2010) Irina F. Sevrioukova   ANTIOXIDANTS & REDOX SIGNALING

Structure of the Human Sulfhydryl Oxidase Augmenter of Liver Regeneration and Characterization of a Human Mutation Causing an Autosomal Recessive Myopathy,

(2010) Vidyadhar N. Daithankar et al.   BIOCHEMISTRY

Role of Magmas in protein transport and human mitochondria biogenesis

(2010) D. Sinha et al.   HUMAN MOLECULAR GENETICS

High TIMM17A expression is associated with adverse pathological and clinical outcomes in human breast cancer

(2010) Mohamed Salhab et al.   Breast Cancer

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

(2009) Alessio Di Fonzo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Mitochondrial Protein Translocation Motor: Structural Conservation between the Human and Yeast Tim14/Pam18-Tim16/Pam16 co-Chaperones

(2009) Shira Elsner et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sib pair with previously unreported skeletal dysplasia

(2008) André Mégarbané et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of Tom5 and Tom6 in the preprotein translocase complex of human mitochondrial outer membrane

(2008) Hiroki Kato et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Dissecting Membrane Insertion of Mitochondrial β-Barrel Proteins

(2008) Stephan Kutik et al.   CELL

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Interaction of Tim23 with Tim50 Is Essential for Protein Translocation by the Mitochondrial TIM23 Complex

(2008) Lada Gevorkyan-Airapetov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY