Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
about
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyDisorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genesGBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical StudiesThe hereditary spastic paraplegia-related enzyme DDHD2 is a principal brain triglyceride lipaseInborn errors of metabolism in the biosynthesis and remodelling of phospholipids.Spastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila.Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).Bacterial β-Glucosidase Reveals the Structural and Functional Basis of Genetic Defects in Human Glucocerebrosidase 2 (GBA2).Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.Human genetic disorders of sphingolipid biosynthesis.An overview of inborn errors of complex lipid biosynthesis and remodelling.Emerging therapeutic targets for Gaucher disease.Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2.Emerging roles for brain drug-metabolizing cytochrome P450 enzymes in neuropsychiatric conditions and responses to drugs.Cytochrome P450 2U1, a very peculiar member of the human P450s family.Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.The Enigmatic Role of GBA2 in Controlling Locomotor Function.CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination.SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?Biochemical Characterization of the c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia
P2860
Q27311579-6F441C71-FC05-4E25-972F-E3A22AE7A97DQ28081453-519E64DE-7985-407B-A01E-766FD37CE689Q28387241-4D0CD135-0F7E-4190-8457-A9C814DFEF80Q28468395-A82060C9-79A8-4E37-8A58-64C03AA29B66Q28591427-6ED17A55-10B7-452A-9421-F354061A8B72Q33417443-24B7925B-5A13-4F2A-AD6C-3513B54A9B6EQ33577245-9DC4E779-6C5A-402D-A51F-41C8CBDEC5BEQ35675022-415277DB-F7D3-45C8-A642-DA048185F0F2Q37105361-252B5827-6019-4A86-BAD3-E38B2068B655Q37741094-2FAFA201-2E85-452A-A644-CE744A466C7DQ38241672-EA4E3625-413B-4EAD-A0BA-D71C591D41BCQ38252662-DEAE4303-71C0-4176-B4EC-E2C78A1E7F01Q38270518-6E2BC7D4-D092-4250-8214-C031C434EE0BQ38646702-0250FF6B-175A-4EFC-BBFB-896EB359762FQ38921093-24140C61-4A44-4A69-B130-482E9BB2F8CFQ39023075-E1E6C65D-E87A-4EC9-9141-C25C7B72EC6CQ40495854-1A794B91-5DF4-40CC-B349-3F5A9C89432EQ47144233-4313B85A-98C9-45F3-8768-9BB17C0C0CAEQ47649753-74257776-E181-4525-A082-9E03A1E5D830Q48098574-1A417591-CB73-4339-A7A9-54FB2D6B278AQ51555285-939AA3C4-DD11-4355-9AB3-79C6B3B8BBEBQ53754462-8EFC1021-2FD5-459A-8CEF-13A10E1F29F2Q57478284-888F8A16-911B-4314-9BC7-26D3B39667C8
P2860
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
description
2013 nî lūn-bûn
@nan
2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@ast
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@en
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@nl
type
label
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@ast
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@en
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@nl
prefLabel
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@ast
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@en
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@nl
P2093
P2860
P50
P1433
P1476
Mutations in CYP2U1, DDHD2 and ...... ereditary spastic paraparesis.
@en
P2093
Alessia Arnoldi
Chiara Germiniasi
Francesca Menni
Marianna Castelli
Robertino Dilena
P2860
P2888
P304
P356
10.1007/S00415-013-7206-6
P50
P577
2013-12-13T00:00:00Z
P5875
P6179
1031487966