The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathway

American Journal of Human Genetics - United States
doi 10.1086/324413
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Elsevier BV

Related search

Diagnosis and Management of Hereditary Paraganglioma Syndrome Due to the F933>X67 SDHD Mutation

Head and Neck
Otorhinolaryngology
2009English

Hypoxia-Mediated Impairment of the Mitochondrial Respiratory Chain Inhibits the Bactericidal Activity of Macrophages

Infection and Immunity
ParasitologyInfectious DiseasesImmunologyMicrobiology
2012English

Function and Structure of Complex II of the Respiratory Chain

Annual Review of Biochemistry
Biochemistry
2003English

Inhibitory Effects of Tetragalloylglucose on the Complex II of Mitochondrial Respiratory Chain of Ascaris Muscle.

Chemical and Pharmaceutical Bulletin
MedicineDrug DiscoveryChemistry
1989English

Tracing the Trail of Protons Through Complex I of the Mitochondrial Respiratory Chain

PLoS Biology
ImmunologyMolecular BiologyGeneticsBiochemistryMicrobiology Biological SciencesAgriculturalNeuroscience
2011English

A Black Cardiac Paraganglioma in a Patient Carrier of SDHD Mutation

High Blood Pressure and Cardiovascular Prevention
Internal MedicineCardiovascular MedicineCardiology
2007English

Mutation Analysis of the SDHB and SDHD Genes in Pheochromocytomas and Paragangliomas: Identification of a Novel Nonsense Mutation (Q168X) in the SDHB Gene

Endocrine Journal
EndocrinologyMetabolismDiabetes
2010English

Fatty Acid Composition and Activity of the Mitochondrial Respiratory Chain Complex I of Pea Seedlings Under Water Deficit

Biologija
2014English

Hereditary Spastic Paraplegia SPG13 Is Associated With a Mutation in the Gene Encoding the Mitochondrial Chaperonin Hsp60

American Journal of Human Genetics
Genetics
2002English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy