Query author contributions in Reactome

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Details on Person Mizumoto, Shuji

Class:Id	Person:3621765
_displayName	Mizumoto, Shuji
_timestamp	2013-05-24 11:03:05
created	[InstanceEdit:3621807] Jassal, B, 2013-05-24
firstname	Shuji
initial	S
surname	Mizumoto
(author)	[LiteratureReference:3621752] Faulty initiation of proteoglycan synthesis causes cardiac and joint defects [LiteratureReference:3636839] Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype [LiteratureReference:3636906] Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome [LiteratureReference:3769476] Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans [LiteratureReference:4420321] Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders [LiteratureReference:5652108] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy [LiteratureReference:9941057] Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity [LiteratureReference:9941167] Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome [LiteratureReference:9941269] Identification of human hyaluronidase-4 as a novel chondroitin sulfate hydrolase that preferentially cleaves the galactosaminidic linkage in the trisulfated tetrasaccharide sequence
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No pathways have been reviewed or authored by Mizumoto, Shuji (3621765)