Mitochondrial diseases

GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

[HTML][HTML] Primary sclerosing cholangitis–a comprehensive review

TH Karlsen, T Folseraas, D Thorburn, M Vesterhus - Journal of hepatology, 2017 - Elsevier
Primary sclerosing cholangitis (PSC) is a rare disorder characterised by multi-focal bile duct
strictures and progressive liver disease. Inflammatory bowel disease is usually present and …

Treatment for mitochondrial disorders

…, K Majamaa, DM Turnbull, D Thorburn… - Cochrane Database …, 2012 - cochranelibrary.com
Background Mitochondrial respiratory chain disorders are the most prevalent group of
inherited neurometabolic diseases. They present with central and peripheral neurological …

[HTML][HTML] A mitochondrial protein compendium elucidates complex I disease biology

DJ Pagliarini, SE Calvo, B Chang, SA Sheth, SB Vafai… - Cell, 2008 - cell.com
Mitochondria are complex organelles whose dysfunction underlies a broad spectrum of
human diseases. Identifying all of the proteins resident in this organelle and understanding …

Leigh syndrome: clinical features and biochemical and DNA abnormalities

S Rahman, RB Blok, HHM Dahl… - Annals of Neurology …, 1996 - Wiley Online Library
We investigated the etiology of Leigh syndrome in 67 Australian cases from 56 pedigrees,
35 with a firm diagnosis and 32 with some atypical features. Biochemical or DNA defects …

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

SE Calvo, AG Compton, SG Hershman… - Science translational …, 2012 - science.org
Advances in next-generation sequencing (NGS) promise to facilitate diagnosis of inherited
disorders. Although in research settings NGS has pinpointed causal alleles using …

Diagnostic criteria for respiratory chain disorders in adults and children

FP Bernier, A Boneh, X Dennett, CW Chow, MA Cleary… - Neurology, 2002 - AAN Enterprises
Background: Respiratory chain (RC) disorders are clinically, biochemically, and molecularly
heterogeneous. The lack of standardized diagnostic criteria poses difficulties in evaluating …

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

D Skladal, J Halliday, DR Thorburn - Brain, 2003 - academic.oup.com
Mitochondrial respiratory chain disorders comprise a group of perhaps several hundred
different genetic diseases. Each individual disorder is rare, but collectively they account for …

Patient age, sex, and inflammatory bowel disease phenotype associate with course of primary sclerosing cholangitis

…, D Gotthardt, MA Färkkilä, HU Marschall, D Thorburn… - Gastroenterology, 2017 - Elsevier
Background & Aims Primary sclerosing cholangitis (PSC) is an orphan hepatobiliary
disorder associated with inflammatory bowel disease (IBD). We aimed to estimate the risk of …

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

DA Stroud, EE Surgenor, LE Formosa, B Reljic… - Nature, 2016 - nature.com
Complex I (NADH: ubiquinone oxidoreductase) is the first enzyme of the mitochondrial
respiratory chain and is composed of 45 subunits in humans, making it one of the largest …