Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients. - Wikidata - wikimedia - TriplyDB

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

http://www.wikidata.org/entity/Q33998247

about

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseases Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB Animal models of GM2 gangliosidosis: utility and limitations Emerging novel concept of chaperone therapies for protein misfolding diseases The delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiology Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability Inhibition of O-GlcNAcase Using a Potent and Cell-Permeable Inhibitor Does Not Induce Insulin Resistance in 3T3-L1 Adipocytes Gaining insight into the inhibition of glycoside hydrolase family 20 exo-β-N-acetylhexosaminidases using a structural approach The Development of Selective Inhibitors of NagZ: Increased Susceptibility of Gram-Negative Bacteria to β-Lactams Gaining insight into the catalysis by GH20 lacto-N-biosidase using small molecule inhibitors and structural analysis Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease Tay-Sachs disease mutations in HEXA target the α chain of hexosaminidase A to endoplasmic reticulum-associated degradation Gene transfer corrects acute GM2 gangliosidosis--potential therapeutic contribution of perivascular enzyme flow Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones.Lending a helping hand, screening chemical libraries for compounds that enhance beta-hexosaminidase A activity in GM2 gangliosidosis cells Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease Development of Unsymmetrical Dyads As Potent Noncarbohydrate-Based Inhibitors against Human β-N-Acetyl-d-hexosaminidase Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.High throughput screening for inhibitors of alpha-galactosidase.A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates Crystal structure of β-hexosaminidase B in complex with pyrimethamine, a potential pharmacological chaperone Fabry disease - current treatment and new drug development.Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses.Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside Chemical and biological approaches synergize to ameliorate protein-folding diseases.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Pharmacological chaperone therapy for lysosomal storage diseases.Pharmacological chaperone therapy for Fabry disease Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta Storage solutions: treating lysosomal disorders of the brain.

P2860

Q21202879-81388380-54D8-4E02-A895-49D93C39B66C Q24601525-171E3B00-FDC0-4ADB-BF98-395E648BB095 Q24602891-47CAA93C-D373-451C-8E93-FD8F145E9412 Q24630192-C1411615-21C3-43FD-A56F-081F7799885D Q24645419-2480FDB8-BF85-456C-858B-37371BE02864 Q26738663-8D871A77-6DC7-4DCB-864A-28ACF9889788 Q27002907-D04F6E8E-B6AD-4A50-B439-0CDB16EA29F2 Q27015793-CF474B50-46C8-4186-92F2-D08AD543CAED Q27654912-D9ED0086-183C-4847-B97B-EBABB39CC9E0 Q27664569-1646A9BE-FAA8-406D-B337-24FFF9F58331 Q27677503-128425BD-C407-428B-852E-AD50911463C1 Q27679877-841F2A25-10F4-4053-8EFB-CE5D533C0972 Q27701904-B15072D6-13B2-454C-BFDD-B8104E9F4FE2 Q28472162-D1324FB0-C890-4780-BEFA-4DC8BB13F48C Q28534395-1D448E98-D8EE-4794-B9D9-AD555B0332A2 Q28540925-F7FA7DFB-8DC3-4355-A11D-61F4DA8AFE7A Q28817048-7274BEA9-D126-4B8C-977C-B8EB61FFEEA2 Q30523995-9570EE09-26F7-48FA-8C38-B7F555112F5A Q30829263-6B128F76-3560-4708-AC27-03DFDDDE723A Q33275131-C07BA322-F770-47AF-A766-3B4ADD1ABEFE Q33300279-3F9E1526-AD11-418B-8D35-BAE3AA9BF277 Q33381275-D2286E40-BE9D-49A0-A651-742EC1004EA1 Q33478327-E8EF6263-DA89-41B7-9B7E-6D4927F6BC26 Q33635976-457BFE29-29AC-463B-8C89-EBFCDA8F9580 Q33660528-49C0D625-F3D0-4B36-BD20-0A0B84123B74 Q33730412-E385C14B-7CA4-4986-9D16-EE8FF37B928B Q33823628-D99B0DDF-7A34-4577-9058-1C5C120AB303 Q33961400-FF15D8F8-F332-4D8A-AD91-D40A7AD67C19 Q34160716-B305803D-1141-4B16-A6C0-A5DDC9EC193A Q34368512-DA71BB06-00E0-4338-892F-D0D9EC3868F1 Q34553589-8E70FAB1-1C24-4E4E-BCF5-294B58947EE9 Q34557737-55FCC602-4FCE-4859-AD74-82EED34A67B5 Q34612557-ADB5C350-8569-4354-8E6F-178FA0951E73 Q34618426-6EF14DD5-7A72-4FE2-BBF5-CC55D8589709 Q34822475-91DE9813-B698-4601-BA47-E130E9522314 Q35007910-0578B21B-C57A-4692-833B-EBC185B2365C Q35214286-978E6A0C-553C-419D-AA88-38A05BF63F24 Q35755438-20E23999-7435-40DE-B5CB-B9D5F3B575A3 Q35946763-A716357A-2406-462D-8EBE-ACD5C7DDC582 Q36210235-087394FD-A2C5-4926-B372-5789FBB726FF

P2860

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

http://www.wikidata.org/entity/Q33998247

description

2004 nî lūn-bûn

@nan

2004 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

@yue

2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

Pharmacological enhancement of ...... y-Sachs and Sandhoff Patients.

@ast

Pharmacological enhancement of ...... y-Sachs and Sandhoff Patients.

@en

type

label

Pharmacological enhancement of ...... y-Sachs and Sandhoff Patients.

@ast

Pharmacological enhancement of ...... y-Sachs and Sandhoff Patients.

@en

prefLabel

Pharmacological enhancement of ...... y-Sachs and Sandhoff Patients.

@ast

Pharmacological enhancement of ...... y-Sachs and Sandhoff Patients.

@en

P1433

Q33998247-FB200140-61C0-4423-89FC-7415410E3A11

P1476

Q33998247-C4547BEE-3667-4E87-BBA6-9B0FF6AB1C25

P2093

Q33998247-0E5584B8-D61D-4743-878A-1108402AC8F8

Q33998247-33D5B7FE-7582-4CFB-894E-9A50CED15077

Q33998247-4B858740-E758-4EC4-841D-02F33707D90C

Q33998247-59B2956C-D63C-4421-A1A4-B68EDC45025B

Q33998247-61F6B789-2F36-4323-AB71-79AABD7BA3B5

P2860

Q33998247-111F53C1-9FD8-4FF2-9C0F-4CCEBADCF5AF

Q33998247-293DE904-5D2E-468F-B3A2-4E72E04B741C

Q33998247-2A49ACC1-8658-4EBE-94E2-E57778D4452C

Q33998247-3F4D8642-D1F7-4783-800B-41568E182971

Q33998247-3F9FEE4E-9936-443D-B4F6-8F2EA4CE6F0D

Q33998247-402FBB72-F48C-425E-9A92-A9EA7539253B

Q33998247-480A4C10-64E3-4C99-8BBB-477F9F693ACE

Q33998247-587EFBD5-281B-4BE4-AF2F-6A97A5B38092

Q33998247-5A228DDA-1E8D-44D8-A770-1784727CFFC3

Q33998247-602B06CE-4FE4-4855-A731-B89DE2AF6746

P304

Q33998247-1F3CD1C1-DCF7-42CA-993A-F3C4847ACF01

P31

Q33998247-EB4F08AB-C5F6-4C49-B558-49E5A36974F9

P356

Q33998247-D84C87F3-AA76-4D0B-AB71-92023F8FDCB1

P407

Q33998247-72DEA359-8D8B-4282-AA54-2BFA2447DBC2

P433

Q33998247-AE2EEC7B-B636-434A-B136-B9D7BC73C5E4

P478

Q33998247-F7A8E241-57A9-4B26-A21B-1D4DE85236F6

P577

Q33998247-539D2B41-8B91-4877-90C4-E2749FB1CA15

P698

Q33998247-1E7FA16C-8EC0-4B8F-9ECB-D628E972BA08

P932

Q33998247-43C4EE0F-114C-4425-B659-35EBB3E0885A

P356

P1433

Journal of Biological Chemistry

P1476

Pharmacological enhancement of ...... y-Sachs and Sandhoff Patients.

@en

P2093

Don Mahuran

http://www.w3.org/2001/XMLSchema#string

Marianne Guiral

http://www.w3.org/2001/XMLSchema#string

Michael B Tropak

http://www.w3.org/2001/XMLSchema#string

Stephen G Withers

http://www.w3.org/2001/XMLSchema#string

Stephen P Reid

http://www.w3.org/2001/XMLSchema#string

P2860

Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts

Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease

Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A

Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

NAG-thiazoline, An N -Acetyl-β-hexosaminidase Inhibitor That Implicates Acetamido Participation

Quality control in the endoplasmic reticulum

P304

13478-13487

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1074/JBC.M308523200

http://www.w3.org/2001/XMLSchema#string

P407

P433

14

http://www.w3.org/2001/XMLSchema#string

P478

279

http://www.w3.org/2001/XMLSchema#string

P577

2004-01-14T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

14724290

http://www.w3.org/2001/XMLSchema#string

P932

2904802

http://www.w3.org/2001/XMLSchema#string