Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
about
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutantIdentification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).Tor1a+/- mice develop dystonia-like movements via a striatal dopaminergic dysregulation triggered by peripheral nerve injury.Convergent evidence for abnormal striatal synaptic plasticity in dystonia.Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies.Catecholamine biosynthesis and physiological regulation in neuroendocrine cells.Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.Alteration of striatal dopaminergic neurotransmission in a mouse model of DYT11 myoclonus-dystonia.EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.Commentary: Dopaminergic dysfunction in DYT1 dystonia.New perspectives on dystonia.The catecholamine system in health and disease -Relation to tyrosine 3-monooxygenase and other catecholamine-synthesizing enzymes.Using mathematical models to understand metabolism, genes, and diseaseEffects of mutations in tyrosine hydroxylase associated with progressive dystonia on the activity and stability of the protein.A new knock-in mouse model of l-DOPA-responsive dystonia.Convergent mechanisms in etiologically-diverse dystoniasStudy of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.Invertebrate models of dystonia.A commentary on the utility of a new L-DOPA-responsive dystonia mouse modelAnimal models for dystonia.Striatal dopaminergic dysfunction at rest and during task performance in writer's cramp.Molecular pathways in dystonia.Emerging common molecular pathways for primary dystonia.Dopa-responsive dystonia--clinical and genetic heterogeneity.Tyrosine hydroxylase (TH), its cofactor tetrahydrobiopterin (BH4), other catecholamine-related enzymes, and their human genes in relation to the drug and gene therapies of Parkinson's disease (PD): historical overview and future prospects.Tyrosine and tryptophan hydroxylases as therapeutic targets in human disease.Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.Function of dopamine transporter is compromised in DYT1 transgenic animal model in vivoTyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis.Tyrosine hydroxylase deficiency: clinical manifestations of catecholamine insufficiency in infancy.Different stabilities and denaturation pathways for structurally related aromatic amino acid hydroxylases.EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias.Systems Biology of Phenotypic Robustness and Plasticity.Dopa-responsive dystonia: recent advances and remaining issues to be addressed.Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice.Intersubunit binding domains within tyrosine hydroxylase and tryptophan hydroxylase.A Three-Ring Circus: Metabolism of the Three Proteogenic Aromatic Amino Acids and Their Role in the Health of Plants and Animals.
P2860
Q24308930-89EFAA08-EBFC-4D54-BC73-7D084AEBC72DQ24540157-6AB3F2E8-4E61-4AB2-AF8D-8EC9D7F31842Q30818559-B0B0F85A-7B02-4D67-A495-F2CFB6890CABQ33756951-6950F48C-CBCA-441F-8DE5-3731B4525B34Q33792200-CA6EEE16-A78E-40FC-883D-7B3F32844389Q33848376-4BD8C234-5707-44BB-93B6-C2600C60571DQ33860047-61DBC22F-1C83-4343-901C-55D1E2A8C7B0Q34206423-6B52E3BE-0544-4FBF-8105-7A15CB89B496Q34291485-DC1F352D-70C7-46A7-8DD9-91FB86E37E03Q35009095-A9998F5E-4A03-41C9-9555-E93E7546C1E3Q35105747-AAFD0E60-139C-4B29-9C8C-A1FE6FD3D8F0Q35115456-CFE4F908-BCDE-4AD5-9196-72AAF3C59EBFQ35786001-7A76C244-4060-4831-BC13-FF35F5D202DCQ35933586-B246AB4A-431B-41B1-A771-B152161A9F49Q36232197-3CD30CE0-F5F0-4B24-9632-91388D8B68F7Q36445234-4C294181-5FE2-499D-A009-93E0DC88F591Q36580711-CF006F95-016A-4DC6-A91C-5B1F59D2AD61Q36634138-C44DB00A-F5C1-4769-9FB7-B3E41A41AAC5Q36817843-5A37563C-45AD-4906-A590-CBDF87903132Q37058173-D2E62AAB-2268-48CE-9EB1-C5A06FE9C312Q37383467-65C274CF-59E2-4C44-B20E-D8220A6D8182Q37816579-2ED69FFF-6732-4759-85D4-6DEEE959BB8EQ38124786-833463FC-EF7E-4F80-A3B9-8A3A83F2DCFEQ38534916-458EC1E1-A583-4799-8DC1-CE14BE358247Q38834545-5856C03D-D465-4834-850C-7E720AC19458Q39038494-A26CE676-56BA-460B-969F-A973B1648FDEQ42148399-4054F22B-8CF4-49EF-AEAA-1BF72525C8DFQ42593925-5E2C1CFA-5CDF-484C-B30C-5682FA5FA288Q43079461-F898F0E1-6353-49F9-B8E2-0235DC99CA83Q43938520-E4AD3E41-B33C-40B7-8BF9-6AF3704A7244Q44889817-8BBF054C-F975-494E-816C-19DFEB57981DQ45293985-D9EB4017-C977-4A1B-A78F-F6E50CAC93F7Q47706608-B0268DEC-910F-4A38-A0B8-E3362701E0E2Q48107730-D5B9570F-C52A-414A-80EC-1AF036ECFCDBQ48585249-29CEF9DC-C47E-4D67-A2D1-D95386C0AD88Q52540000-EB135D08-3A9E-431A-AEBD-D3ED043B56FAQ52571058-12F403DD-C837-4D35-A2E7-73346CAEC36F
P2860
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
description
1995 nî lūn-bûn
@nan
1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@ast
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@en
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@nl
type
label
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@ast
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@en
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@nl
prefLabel
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@ast
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@en
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@nl
P2093
P3181
P356
P1476
Recessively inherited L-DOPA-r ...... the tyrosine hydroxylase gene
@en
P2093
K Bartholomé
P M Knappskog
T Flatmark
P304
P3181
P356
10.1093/HMG/4.7.1209
P407
P577
1995-07-01T00:00:00Z