Associated Papers
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.
Shoda T et al.
Nature Communications, 2021
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
Ibrahim A et al.
Archives of Pathology & Laboratory Medicine, 2020
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.
Rijken JA et al.
Cancers, 2019
Nationwide study of patients with head and neck paragangliomas carrying SDHB germline mutations.
Rijken JA et al.
Bjs Open, 2018
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.
Casey RT et al.
Jco Precision Oncology, 2018
Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.
Miettinen M et al.
The International Journal of Biochemistry & Cell Biology, 2014
An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumours (GIST).
Nannini M et al.
Journal of Medical Genetics, 2013
Mutations in Escherichia coli ExbB transmembrane domains identify scaffolding and signal transduction functions and exclude participation in a proton pathway.
Baker KR et al.
Journal of Bacteriology, 2013
Succinate dehydrogenase kidney cancer: an aggressive example of the Warburg effect in cancer.
Ricketts CJ et al.
The Journal of Urology, 2012
A naturally thermolabile activity compromises genetic analysis of telomere function in Saccharomyces cerevisiae.
Paschini M et al.
Genetics, 2012
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
Ricketts CJ et al.
Human Mutation, 2010
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.
Burnichon N et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
Santamaria R et al.
Human Mutation, 2008
Functional consequences of mutations in the conserved 'signature sequence' of the ATP-binding-cassette protein MalK.
Schmees G et al.
European Journal of Biochemistry, 1999
Protease trafficking in two primitive eukaryotes is mediated by a prodomain protein motif.
Huete-Pérez JA et al.
The Journal of Biological Chemistry, 1999
Effect on thermostability and catalytic activity of introducing disulfide bonds into Aspergillus awamori glucoamylase.
Li Y et al.
Protein Engineering, 1998
Mutational analysis of the first extracellular loop region of the H(+)-ATPase from Saccharomyces cerevisiae.
Seto-Young D et al.
The Journal of Biological Chemistry, 1994