Associated Papers
Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?
Gruber LM et al.
Endocrine Oncology (bristol, England), 2023
37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Missense_Variants
Mechanisms of SSBP1 variants in mitochondrial disease: Molecular dynamics simulations reveal stable tetramers with altered DNA binding surfaces.
Gustafson MA et al.
Dna Repair, 2021
Solution structure and functional investigation of human guanylate kinase reveals allosteric networking and a crucial role for the enzyme in cancer.
Khan N et al.
The Journal of Biological Chemistry, 2019
5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.
Marconi C et al.
Journal of Hematology & Oncology, 2017
28100250 (PubMed )
Supplement: 13045_2016_382_MOESM1_ESM.docx
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
25527629 (PubMed )
Supplement: jmedgenet-2014-102803-s1.pdf
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
Santos R et al.
Antioxidants & Redox Signaling, 2010
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
Lyly A et al.
Bmc Cell Biology, 2007
Conserved glycine residues in the fusion peptide of the paramyxovirus fusion protein regulate activation of the native state.
Russell CJ et al.
Journal of Virology, 2004
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
Das AK et al.
Human Molecular Genetics, 2001
A novel nucleolar G-protein conserved in eukaryotes.
Park JH et al.
Journal of Cell Science, 2001
Phenotypic analysis of random hns mutations differentiate DNA-binding activity from properties of fimA promoter inversion modulation and bacterial motility.
Donato GM et al.
Journal of Bacteriology, 1999
A glycine to alanine substitution in the paramyxovirus SV5 fusion peptide increases the initial rate of fusion.
Bagai S et al.
Virology, 1997
Molecular analysis of mutated thyroid peroxidase detected in patients with total iodide organification defects.
Bikker H et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Studies on the fusion peptide of a paramyxovirus fusion glycoprotein: roles of conserved residues in cell fusion.
Horvath CM et al.
Journal of Virology, 1992
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