Inborn errors of metabolism associated with 3-methylglutaconic aciduria

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy

(2020) Eric D. Gaier et al.   OPHTHALMIC GENETICS

Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress Response

(2020) Olatz Ugarteburu et al.   Journal of Clinical Medicine

TMEM70 functions in the assembly of complexes I and V

(2020) Laura Sánchez-Caballero et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

MEGDEL Syndrome

(2020) Josef Finsterer et al.   PEDIATRIC NEUROLOGY

Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations

(2020) Ryan R Cupo et al.   eLife

trans-3-Methylglutaconyl CoA isomerization-dependent protein acylation

(2020) Rebecca Young et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

(2020) Tova Hershkovitz et al.   Molecular Genetics and Metabolism Reports

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

(2019) Frederic Tort et al.   HUMAN MUTATION

3-Methylglutaric acid in energy metabolism

(2019) Dylan E. Jones et al.   CLINICA CHIMICA ACTA

Mitochondrial dysfunction, AMPK activation and peroxisomal metabolism: A coherent scenario for non-canonical 3-methylglutaconic acidurias

(2019) Joseph Vamecq et al.   BIOCHIMIE

HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy—Report of 11 Patients

(2018) Gilles Morin et al.   NEUROPEDIATRICS

HACE1 is essential for astrocyte mitochondrial function and influences Huntington disease phenotypes in vivo

(2017) Dagmar E Ehrnhoefer et al.   HUMAN MOLECULAR GENETICS

Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy

(2017) Nikita Ikon et al.   LIPIDS

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

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

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

(2016) Avraham Zeharia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism

(2016) Nikita Ikon et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

(2016) Monika Oláhová et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

(2016) Hanna Mandel et al.   JOURNAL OF MEDICAL GENETICS

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

(2015) Carol Saunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

(2015) Saskia B. Wortmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review

(2015) Takeshi Sato et al.   EUROPEAN JOURNAL OF PEDIATRICS

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation

(2015) Marta Kanabus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

(2015) Rosalba Carrozzo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disruption ofCLPBis associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

(2015) José-Mario Capo-Chichi et al.   JOURNAL OF MEDICAL GENETICS

Ubiquitylation of Autophagy Receptor Optineurin by HACE1 Activates Selective Autophagy for Tumor Suppression

(2014) Zhengzhao Liu et al.   CANCER CELL

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

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

Metabolic biology of 3-methylglutaconic acid-uria: a new perspective

(2014) Betty Su et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids

(2014) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response

(2014) B. Rotblat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

(2013) Sze Chern Lim et al.   HUMAN MOLECULAR GENETICS

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria

(2013) Frederic Tort et al.   MOLECULAR GENETICS AND METABOLISM

Barth syndrome

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

Hace1 controls ROS generation of vertebrate Rac1-dependent NADPH oxidase complexes

(2013) Mads Daugaard et al.   Nature Communications

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

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

Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation

(2012) Vendula Havlíčková Karbanová et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

(2012) Saskia B. Wortmann et al.   European Journal of Medical Genetics

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria

(2012) Mir Reza Bekheirnia et al.   GENE

Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome

(2012) T. Wells et al.   HUMAN MOLECULAR GENETICS

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

The tumour suppressor HACE1 controls cell migration by regulating Rac1 degradation

(2012) S Castillo-Lluva et al.   ONCOGENE

Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype

(2012) Katarzyna Iwanicka-Pronicka et al.   PLoS One

The E3 Ubiquitin-Ligase HACE1 Catalyzes the Ubiquitylation of Active Rac1

(2011) Stéphanie Torrino et al.   DEVELOPMENTAL CELL

The ubiquitin ligase HACE1 regulates Golgi membrane dynamics during the cell cycle

(2011) Danming Tang et al.   Nature Communications

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1   subunit

(2010) J. A. Mayr et al.   HUMAN MOLECULAR GENETICS

The 3-methylglutaconic acidurias: what’s new?

(2010) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

The mitochondrial serine protease HtrA2/Omi: an overview

(2008) L Vande Walle et al.   CELL DEATH AND DIFFERENTIATION