A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). - Wikidata - awgldk - TriplyDB

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

http://www.wikidata.org/entity/Q45863440

about

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies Sanfilippo syndrome: causes, consequences, and treatments Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice.Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy.Mannose 6-phosphate receptor-mediated transport of sulfamidase across the blood-brain barrier in the newborn mouse.Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB Distribution of Heparan Sulfate Oligosaccharides in Murine Mucopolysaccharidosis Type IIIA Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier.Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA.Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice.Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice.Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C.A genetic model of substrate reduction therapy for mucopolysaccharidosis.Neonatal Bone Marrow Transplantation in MPS IIIA Mice.Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII Animal models for mucopolysaccharidosis disorders and their clinical relevance.A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.Functional correction of neurological and somatic disorders at later stages of disease in MPS IIIA mice by systemic scAAV9-hSGSH gene delivery The mucopolysaccharidoses: a success of molecular medicine.Monitoring autophagy in lysosomal storage disorders Glycan-based biomarkers for mucopolysaccharidoses.Novel pathologic findings associated with urinary retention in a mouse model of mucopolysaccharidosis type IIIB.Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC.Mechanism of shortened bones in mucopolysaccharidosis VII Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.Lysosomal storage disease: revealing lysosomal function and physiology.Animal models for metabolic, neuromuscular and ophthalmological rare diseases.

P2860

Q21142752-67EF3008-F630-4F53-9350-E1E8D9D72789 Q24647066-14636971-1ECB-4B2B-BAB2-B4C995E8F83C Q24683062-58CF5114-8349-4962-842C-963E01E7B4BC Q26773200-10B16A63-B2A4-4F49-8D05-2FBD5FDA92DD Q27301077-FDFC4FB0-5EE7-4B83-BAA5-CC1279587995 Q27303930-7BE5E9EE-018E-4DEA-82DD-3219D425C53C Q27317299-69277159-234C-42A5-91C4-E48C0553E904 Q28201581-2F909476-77C1-49DC-A882-519CA28AE180 Q30524212-395BC2B9-8381-4538-AF37-7E13BC5F5CC9 Q30541880-178675F2-6201-4E13-A094-6DF8C95EAF73 Q30554347-E152F8E5-9142-4F0D-ABF0-5AC1E239C649 Q33572735-D93AC985-ABAD-481E-A56E-16F3B235C9BE Q33579453-B2242D47-FB97-48C5-952B-8454FC643F91 Q34015528-69A230BA-3A68-4C0B-912D-7B9C67E35ECE Q34256752-D78CCAF4-7951-45C7-A784-CF45B84FA519 Q34762478-90CBE4C8-BE84-4D7C-9448-F8134542F618 Q34785756-A6E6E490-930D-48C9-8D5F-474452E8DE2A Q35007910-5A4A3215-9B50-4380-9E18-974EC2E71EFC Q35034401-96795A97-B5DF-45DB-9F5D-98F7A21640F5 Q35613015-A9FD2885-BAD8-4D05-A7FB-6C98D4DBC2FC Q35663888-5AFFE65B-328D-4E0D-968D-F88B785C7AF6 Q35683073-4FFE706C-F217-4E83-9063-3F270D027478 Q35754176-FE943698-98C1-4F36-9EC7-42544F5D8835 Q36068878-CFA0E3FE-2D10-4C43-8EAE-04E13BC9B781 Q36105890-61E09812-15C4-462E-83A7-CF528525D674 Q36332885-753D4CFB-BC73-4AC4-BE99-5991E90A124C Q36590943-20A822A4-289A-4076-861A-23EC32249E7D Q36674929-B5AAF262-DBC7-48D3-AE30-2C018EB2C728 Q36772983-C5A3EC18-AB2D-4A4A-9FF0-45CC68CFD9F7 Q36870087-B5986B64-2530-4558-8A21-8A58E702C6CA Q36982214-97AFFA08-19D8-4058-8331-44598F7BE8E4 Q37059193-866C0A6D-FFA4-4370-8CBE-8ED182F7DF96 Q37159173-D1F12E10-D88C-4803-AF8B-061AB7A28B08 Q37161285-83410486-BE1D-4866-A742-9CB47DD7173E Q37243845-7B47A388-411B-4973-8D06-D0812D7E395A Q37305882-3703D740-D80D-4A3D-ACDD-B6AB96032E68 Q37416992-933EECF2-43F9-4A7E-908B-C1733A30A204 Q37555645-56857A45-3A7B-453F-8957-4DFEB69371DE Q37739706-5104BEA4-D531-4DC3-AA95-56006E86E533 Q38089518-D0691756-C55C-4116-86BC-188F82B992A0

P2860

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

http://www.wikidata.org/entity/Q45863440

description

1999 nî lūn-bûn

@nan

1999年の論文

@ja

1999年学术文章

@wuu

1999年学术文章

@zh

1999年学术文章

@zh-cn

1999年学术文章

@zh-hans

1999年学术文章

@zh-my

1999年学术文章

@zh-sg

1999年學術文章

@yue

1999年學術文章

@zh-hant

name

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

@en

A mouse model for mucopolysaccharidosis type III A

@nl

type

label

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

@en

A mouse model for mucopolysaccharidosis type III A

@nl

prefLabel

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

@en

A mouse model for mucopolysaccharidosis type III A

@nl

P1433

Q45863440-E0869560-5629-458C-BC92-348860F06A57

P1476

Q45863440-ECD9751C-E733-4322-9AE3-71FC3A93AE25

P2093

Q45863440-014426F0-91C0-4A29-90D2-0305079F8128

Q45863440-043D2E2F-2753-4DD1-A153-E407F2A249A5

Q45863440-13B171A5-DB54-432A-AB36-983920860F3F

Q45863440-7B3B9548-801D-4C91-B777-DF8395C1EF52

Q45863440-7F2D68F4-825D-4691-8F16-8643A8155F0B

Q45863440-9BB2CD2F-0709-4C0F-95DC-F6D25626EBDE

Q45863440-9C4D2872-5EF4-4DF6-950B-DD0FFE03C78A

Q45863440-C3AC1915-1CAA-48C0-93E7-7200ED38D3F2

Q45863440-CD247A1F-625D-46F9-85C2-5D914C65F98D

Q45863440-D8D49CE1-059D-48C1-A15F-63011193114E

P2860

Q45863440-1316B617-D962-415D-B2CA-B97D969D7FF0

Q45863440-19C33C64-8BF7-4F3D-8D71-46FEEAAF4988

Q45863440-25013251-2CCD-42A2-888A-648EEEA30263

Q45863440-3161905E-3F00-42F1-9A3C-21BD13E3B744

Q45863440-31D632BA-B237-4357-876F-B2EFA2A720DA

Q45863440-43698770-9CE4-4628-BCCF-91C6BB5C51FE

Q45863440-4BCE230D-0062-4C2B-B186-3BBFF5A8E061

Q45863440-555BDE87-AB05-4437-8FF0-6997C8686248

Q45863440-67E6D78F-31BE-481D-A155-BB54A6C55548

Q45863440-6F4CF4FA-F5C6-4070-84ED-92F1A03A7845

P304

Q45863440-DDCD12D2-F29D-4357-BC39-12A2AF8D05C9

P31

Q45863440-6DA32FB6-B0FD-42F1-93AE-4A45F18BEE7B

P356

Q45863440-8EAE5E91-7D91-4CAB-8426-BC7C51B4288E

P433

Q45863440-D83DB15E-BCB3-4092-94CE-304CFE4AC690

P478

Q45863440-CC29C838-C602-48B9-B9FE-5552E0DF1C08

P577

Q45863440-C59B51A2-5558-48FD-AD63-E0504429F38B

P5875

Q45863440-FF621D35-6F14-4882-8D95-2B1432B0598F

P698

Q45863440-DC1E7CEF-C116-4563-8173-CEA73210C726

P356

P1433

P1476

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

@en

P2093

Bhattacharyya R

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

Bhaumik M

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

Dobrenis K

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

Finamore P

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

Hopwood JJ

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

Johnson L

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

Muller VJ

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

Rozaklis T

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

Stanley P

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

Walkley SU

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

P2860

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

The molecular basis of Sanfilippo syndrome type B

Molecular defects in Sanfilippo syndrome type A

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

Structure and sequence of the human sulphamidase gene

Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate

A cDNA clone for human glucosamine-6-sulphatase reveals differences between arylsulphatases and non-arylsulphatases

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

P304

1389-1396

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

P31

scholarly article

P356

10.1093/GLYCOB/9.12.1389

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

P433

12

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

P478

9

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

P577

1999-12-01T00:00:00Z

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

P5875

12740645

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

P698

10561464

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