Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
about
An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgroundsPyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.Homozygous hereditary C3 deficiency due to a partial gene deletion.Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants.The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors.Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia.Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile PatientsChaperone therapy for GM2 gangliosidosis: effects of pyrimethamine on β-hexosaminidase activity in Sandhoff fibroblasts.A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi.Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination.Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles.Cerebral organoids derived from Sandhoff disease induced pluripotent stem cells exhibit impaired neurodifferentiation.Novel splice site mutation at IVS8 nt 5 of HEXB responsible for a Greek-Cypriot case of Sandhoff disease.Defective HEXB does not cleave the terminal GalNAc from DSDefective HEXB does not cleave the terminal GalNAc from keratan sulfateDefective HEXB does not cleave the terminal GalNAc from HA fragmentsMobile Elements in the Human Genome: Implications for Disease
P2860
Q24564840-132FC18B-4777-455B-91BB-D6D62435DB10Q30829263-A6FA4002-9909-48C4-9295-E96D04926FECQ31063973-666953C8-A6C5-42F1-B948-E92599524CF8Q34242968-C361C9CA-A484-4D90-ACA8-BA2B7D649254Q34358575-BB9ED11B-EB91-4D17-B648-1D4687D547E7Q34804028-66C9A461-12EC-4D1E-8D12-B8CEB1951E36Q35194533-F6ECC917-EDC1-400E-8624-19B8EAD1ECC5Q36348961-8DC2069F-97D7-4EA7-871F-9FE230E696FFQ38172827-D0A8D787-4AC4-48A6-99E1-018149732A60Q38334617-A637013F-221B-4684-AFEC-47C9B107AB69Q40392697-7A68F55D-75B4-4D87-899B-69F9BAC0B0ABQ41082050-FC12CB30-80F1-4F2A-A319-7F44B81C2FB2Q44638277-CF2A116C-7813-4516-A836-5ACDC0164E93Q47846451-1441CDD8-37E9-4544-935D-F83BC8B51B67Q47994609-273DA805-91B9-4A02-B731-206984B46ECDQ55214638-2251E6BC-508E-4612-97C5-23463002F734Q55214639-D04AFB0D-173B-44E1-BDCC-8B20CF8F31A0Q55214640-3345709D-0B32-49D4-96A7-4C6C83DB40B0Q56992548-BB8F96B6-9026-4966-B845-EA1BA25E720C
P2860
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
description
1990 nî lūn-bûn
@nan
1990 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@ast
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@en
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@nl
type
label
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@ast
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@en
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@nl
prefLabel
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@ast
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@en
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@nl
P2093
P2860
P356
P1476
Structure and distribution of an Alu-type deletion mutation in Sandhoff disease
@en
P2093
P2860
P304
P356
10.1172/JCI114871
P407
P577
1990-11-01T00:00:00Z