Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure - Wikidata - awgldk - TriplyDB

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

http://www.wikidata.org/entity/Q28379342

about

In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease Murine models of acute neuronopathic Gaucher disease.Sphingolipid activator proteins are required for epidermal permeability barrier formation.Accumulation of protein-bound epidermal glucosylceramides in beta-glucocerebrosidase deficient type 2 Gaucher mice.Effective cell and gene therapy in a murine model of Gaucher disease.Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.Sphingolipid activator proteins: proteins with complex functions in lipid degradation and skin biogenesis.Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation Expression of human Gaucher disease gene GBA generates neurodevelopmental defects and ER stress in Drosophila eye Skeletal aspects of Gaucher disease: a review.Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Substrate reduction therapy in mouse models of the glycosphingolipidoses Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.Gene therapy for lysosomal storage diseases (LSDs) in large animal models.Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.Epidermal sphingolipids: metabolism, function, and roles in skin disorders.Animal models for mucopolysaccharidosis disorders and their clinical relevance.Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.Covalent inhibitors of glycosidases and their applications in biochemistry and biology.Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.Upregulation of proinflammatory cytokines in the fetal brain of the Gaucher mouse.Ambroxol effects in glucocerebrosidase and α-synuclein transgenic mice.Animal models for Gaucher disease research.Gaucher disease paradigm: from ERAD to comorbidity.Animal models for metabolic, neuromuscular and ophthalmological rare diseases.Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives.Gaucher disease: Progress and ongoing challenges.Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.Carbohydrate expression and modification during keratinocyte differentiation in normal human and reconstructed epidermis.Postnatal requirement of the epithelial sodium channel for maintenance of epidermal barrier function.α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism.Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.

P2860

Q28476287-22FFDDAE-B147-4460-8B34-0D618E276EFB Q28482370-B50D85C3-5B8A-4335-884E-5CB7B4E6F18B Q30480646-C07262F8-5992-47E5-851C-5D1CDA5F3D5A Q30668998-15E7698B-F8FD-49B5-AF8E-4FC5936AB6B5 Q30673583-3164B788-7C95-41D6-B3F6-574647F4C65E Q33256447-FD3D3056-FB95-4E9E-85E1-692D7E35AAB7 Q33844209-36438405-B4F0-4D44-985E-97D8FB6C63D4 Q33870303-31AD18B4-D942-4B31-897C-4C4BC637F27F Q34303694-91CBE975-D3E6-483E-B2B7-692EF17AAFA2 Q34555995-72F60C3A-22B9-4653-A0C0-23A041A4FE17 Q34655275-2E9FADB5-F594-443D-842D-18916688AF8B Q34661021-10889C66-0EDA-432A-AD14-E42E41689018 Q34791322-6586CDE0-68E3-4ABD-9AAF-F69B81725275 Q35007910-D49423E2-7A7B-4BA0-BB00-1BFA18F0B8FE Q35153239-0575D1E2-BECD-4B42-9ECA-0BC5CA1FCC28 Q35763244-48CB5A4B-CB4C-4F76-84AE-B1B4E2D747C2 Q35923476-D72BF5CE-D089-4DA9-9331-B49D191301C3 Q36362062-15AA8E32-7D92-4495-BBAB-AE9FE47B01AB Q36589543-E764993B-31C7-46F8-8ECA-377F8D35A9A3 Q36772983-6F78A5A6-EC07-4363-AB00-15A5D691BDC9 Q36961324-11D2D0D8-45BC-4F78-8A40-96CBA4779771 Q37171562-F268F560-9F32-49E7-B036-E1BFF384D088 Q37209173-7980961A-BBA3-4A95-AB19-B087218A48B8 Q37313215-4CF6C1B2-3D58-4DA3-BC6E-CFBA2232425F Q37462136-8888B7EB-6F77-45E2-A106-D50ABE52A3A8 Q37939781-5A7FB076-7A42-4717-A355-40FC4A2E2D10 Q38012690-20472BC7-A763-4581-985C-1535199097FA Q38089518-81C270CB-D238-4BF7-94A1-4661578D5F34 Q38684097-B17F46B3-B124-4A09-A4AB-71716D2235EE Q39028972-BD647FA5-882A-4789-B80F-C8D7E5DB05AC Q39254537-8E0B7E3A-3DB3-4394-BCD6-8CA37C2C1BE0 Q41886566-F6142391-0D7D-4E90-8D19-D36E4D82C355 Q41926295-67327FA1-184E-4A8F-8A90-2DD856A7F216 Q44713574-3CDE1EEC-2599-4C4F-AA5F-185C40E57F5C Q46881356-8710A39C-AE00-411C-813E-8FF0D1925AB4 Q47193560-82EBEB8F-A53E-4230-916F-C254484B412F Q53663619-16AE5180-BBE2-424B-9B8C-725844DCE48D

P2860

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

http://www.wikidata.org/entity/Q28379342

description

1998 nî lūn-bûn

@nan

1998 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի մարտին հրատարակված գիտական հոդված

@hy

1998年の論文

@ja

1998年論文

@yue

1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

name

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@ast

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@en

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@nl

type

label

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@ast

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@en

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@nl

prefLabel

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@ast

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@en

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@nl

P1433

Q28379342-142B7FA1-7295-4257-B917-8FB4632E6F46

P1476

Q28379342-A09F0214-8919-4EFA-B7E9-AF27DDC4BEDB

P2093

Q28379342-0BCDED1E-4844-4457-B583-10961F199F87

Q28379342-70E7DE9F-B860-4821-9F2A-01354AD42281

Q28379342-7621E7FF-42CA-4CFE-BAE8-660EF00E74F0

Q28379342-A61C1B03-D2E5-4ED2-81DF-6A65CE59FC0E

Q28379342-A9B02E2F-FA15-45F4-A359-2A1226CC09F2

Q28379342-B4134670-218F-4A36-88ED-ECCF09413E67

Q28379342-D810CA42-A291-410D-BF20-6F2E4FAF2CDC

Q28379342-F0D1C668-7379-416E-9B6D-70B282D2D23C

P2860

Q28379342-106E573A-41AE-45E0-85D0-6C09CB4C03D2

Q28379342-1D399864-677A-4F10-8B43-15433932822D

Q28379342-25A9C4FD-002E-4CAC-AF79-0ECEF8B40B4F

Q28379342-3642FD4E-9280-4C35-954A-0CA2263C6BCE

Q28379342-3A19A94B-0C42-43F7-9BC5-C99E8F8B475B

Q28379342-4095503D-832E-41FB-83EF-851C8E264155

Q28379342-4189136E-C28A-42EC-8A9F-08B754D64610

Q28379342-517E0713-09C2-4B42-9ED1-38A890C9CE09

Q28379342-5601B8D8-CCEC-42F1-A23F-2627A237CC9E

Q28379342-58D225AA-96F4-4287-BA7C-0EEB0702E012

P304

Q28379342-483E26D3-A893-4C69-BE8E-DC0265126AB1

P31

Q28379342-EDEA0217-1E51-4F6E-8D47-C98670B7CCBC

P356

Q28379342-A43D7072-8481-4AFB-91A4-C5930BD19448

P407

Q28379342-55A5FDC5-9282-4AD0-8B18-A7C35DF79843

P433

Q28379342-03B40203-8B0D-4FDF-9F5B-1367D361F156

P478

Q28379342-18E4A2ED-9B22-41C6-B3C4-6BCE9CA11F3F

P50

Q28379342-3CFDD9F7-D699-4E8C-926A-3F29707F7776

P577

Q28379342-A7E9E15F-03A1-4803-99E2-EAB28564105D

P5875

Q28379342-A52D3629-7813-4AA2-B895-8F90740AB34F

P698

Q28379342-49DBF4AA-8541-4648-8E41-7BFFF4E503B8

P932

Q28379342-F42B0317-7A8A-4BEC-A492-58DCF8360EA6

P356

P1433

Proceedings of the National Academy of Sciences of the United States of America

P1476

Mice with type 2 and 3 Gaucher ...... nsertion mutagenesis procedure

@en

P2093

A Grinberg

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

A Hoffmann

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

H Westphal

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

J D Reed

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

K Sandhoff

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

K Suzuki

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

T Döring

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

Y Liu

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

P2860

Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease

Site-directed point mutations in embryonic stem cells: a gene-targeting tag-and-exchange strategy

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

Mutations causing Gaucher disease

The double-strand-break repair model for recombination

Altering the genome by homologous recombination

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment

Glucosylceramide metabolism is regulated during normal and hormonally stimulated epidermal barrier development in the rat

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

P304

2503-2508

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

P31

scholarly article

P356

10.1073/PNAS.95.5.2503

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

P407

P433

5

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

P478

95

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

P50

Richard L. Proia

P577

1998-03-01T00:00:00Z

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

P5875

235606674

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

P698

9482915

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

P932

19391

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