about
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsThe human chitotriosidase gene. Nature of inherited enzyme deficiencyChitotriosidase, a chitinase, and the 39-kDa human cartilage glycoprotein, a chitin-binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophagesCloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophagesCyclic AMP-dependent protein kinase phosphorylates merlin at serine 518 independently of p21-activated kinase and promotes merlin-ezrin heterodimerizationInhibition of cellular functions of HIV-1 Nef by artificial SH3 domains.Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.Characterization of human phagocyte-derived chitotriosidase, a component of innate immunity.The biology of the Gaucher cell: the cradle of human chitinases.Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.Nef associates with p21-activated kinase 2 in a p21-GTPase-dependent dynamic activation complex within lipid rafts.Cell cycle-dependent nucleocytoplasmic shuttling of the neurofibromatosis 2 tumour suppressor merlin.Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease.NANS-mediated synthesis of sialic acid is required for brain and skeletal development.Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase.Nimodipine protects cultured spinal cord neurones from depolarization-induced inhibition of neurite outgrowthA case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiencySynthesis, sorting, and processing into distinct isoforms of human macrophage chitotriosidaseGeneration of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidaseCCL18: a urinary marker of Gaucher cell burden in Gaucher patients
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description
researcher ORCID ID = 0000-0002-8174-6538
@en
wetenschapper
@nl
name
Herma Renkema
@ast
Herma Renkema
@en
Herma Renkema
@es
Herma Renkema
@nl
type
label
Herma Renkema
@ast
Herma Renkema
@en
Herma Renkema
@es
Herma Renkema
@nl
prefLabel
Herma Renkema
@ast
Herma Renkema
@en
Herma Renkema
@es
Herma Renkema
@nl
P106
P1153
6602905196
P31
P496
0000-0002-8174-6538