about
P688
Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairmentPrevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycinDramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseasesMice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathologyII. Characterization and development of the regional- and cellular-specific abnormalities in the epididymis of mice with beta-hexosaminidase A deficiencyA genetic model of substrate deprivation therapy for a glycosphingolipid storage disorderCharacterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosidesDynamics of major histocompatibility complex class II compartments during B cell receptor-mediated cell activationDisruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs diseaseApoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseasesTargeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs diseaseTGF-β/Smad2/3 signaling directly regulates several miRNAs in mouse ES cells and early embryosLate onset Tay-Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous systemMice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosisAdenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out miceSpecificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2
P921
Q28504760-EF58AB21-564C-403D-8584-E4A870E79BAEQ28505993-917549A3-3244-4FD7-B195-0EA5A8E2FFC5Q28506454-832465B4-4F14-4355-83C9-D9E60CAA3708Q28507414-510C107E-3680-4050-A458-7D5532A61C6AQ28510054-86EB7955-5D6B-417E-BE87-8A0594922F36Q28511052-E5148640-9FDB-49CB-A33B-4DCD9385D7F8Q28585326-63ABB2E1-2E05-48E7-8865-40D020F70CFCQ28585845-EF57848C-3CDA-46D7-96D5-61EA41B95AACQ28585854-DB6C0A5F-7CE5-4B54-9814-E5C72D4B7FF1Q28585898-AC1D2671-9FD0-459E-9933-E878DB0180ACQ28592824-52812B74-2871-41A1-94F2-03B7A238F2ADQ28593016-F0FD91F3-2EFA-409A-9C09-16139347408CQ28593569-545FD1A1-EF53-4BE4-93C1-E13190E16FB4Q28594483-E2C427D0-6218-415E-A5CB-803C5BD09E1EQ28594525-9A0511EE-B3B8-4563-8C8B-AA4B48F4CC93Q28594978-05B6A61B-477E-438D-A4A7-F94C90EEEA21
P921
description
mammalian protein found in Mus musculus
@en
protein
@id
proteinë
@sq
proteïne in Hexosaminidase A
@nl
protèin
@ace
بروتين في فأر المنازل
@ar
name
Hexosaminidase A
@en
Hexosaminidase A
@nl
type
label
Hexosaminidase A
@en
Hexosaminidase A
@nl
altLabel
Hexa
@en
N-acetyl-beta-glucosaminidase subunit alpha
@en
beta-N-acetylhexosaminidase subunit alpha
@en
beta-hexosaminidase subunit alpha
@en
hexosaminidase subunit A
@en
prefLabel
Hexosaminidase A
@en
Hexosaminidase A
@nl
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science/hexosaminidase-A
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ENSMUSP00000026262