The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
about
Identification of a vesicular aspartate transporterThe lysosomal sialic acid transporter sialin is required for normal CNS myelinationAn Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage diseaseVaried mechanisms underlie the free sialic acid storage disordersDatabase for the mutations of the Finnish disease heritage.Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in uteroA 13-year follow-up of Finnish patients with Salla disease.Successful prediction of substrate-binding pocket in SLC17 transporter sialin.G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking.Free sialic acid storage disease without sialuriaLarge-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval.Systematic review of autosomal recessive ataxias and proposal for a classification.Functional characterization of wild-type and mutant human sialin.Aspartate release and signalling in the hippocampus.From Nitrate to Nitric Oxide: The Role of Salivary Glands and Oral Bacteria.Molecular pathogenesis of sialic acid storage diseases: insight gained from four missense mutations and a putative polymorphism of human sialin.Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.An Unusual Developmental Profile of Salla Disease in a Patient with the SallaFIN Mutation.Functional characterization of vesicular excitatory amino acid transport by human sialin.Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.A case of Salla disease with involvement of the cerebellar white matter.Epidemiology of lysosomal storage diseases in Sweden.Defective SLC17A5 causes Salla disease (SD) and ISSDDefective SLC17A5 does not cotransport Neu5Ac; H+ from lysosomal lumen to cytosolSLC17A5 cotransports Neu5Ac; H+ from lysosomal lumen to cytosol
P2860
Q24646582-032E867D-24EE-43AE-BCF1-9E0C83C6AFA1Q24648839-C0A9A854-F696-4879-A96B-7016ECAEF476Q28214843-A381C9E7-C1DD-4315-B3CE-4FC4A96B1F6FQ28564816-11562D2D-2982-4E12-B5A1-6B6744835AD8Q34520022-D2901976-1C5F-477A-8124-92E45C5E9A3FQ35214546-1C6E2889-B0FE-4C0D-939C-59BCE3B212ACQ35447243-455077D6-5BC1-440B-A2A9-DEE5A3F842B2Q35844729-93BCB1D9-FD1E-47D7-A3BB-4175D051C605Q35879473-5BC5DEB0-66E2-432C-8B31-26661FFDC7B7Q36320664-7B8390C2-03D4-4B6E-9F0B-96F16A6F8CA5Q36430059-523FAEA0-BFA1-476D-BFEB-DB70E32B85DCQ37209288-6659A83E-DC1E-4CE5-AEE5-DF814FB9E225Q37663386-1259EF0F-28B0-457B-AA0C-06E1C0E9C64DQ37671844-02991E5A-C90E-4F05-8583-DC67AA54B459Q37800822-DEC37044-7136-4CE2-BF07-A8814DD4724CQ39016089-5AB39BD2-EEF1-4496-A8C9-4302107CB26EQ39993666-244E236C-B7DF-4A48-BC2A-58AEFBA06C9EQ41883124-FF3384AE-91D6-4EBA-B316-E414FCA4811FQ42156656-B329364D-F509-4615-83DE-E1925B15010AQ42379931-4AB42CD2-08BA-4076-A5E7-16A40CE63D28Q42730220-2E00517D-5941-44D1-BA2F-703E9EC7475DQ43613132-44CC1BCB-D554-4ED3-BEA5-350A752D162AQ44319830-733DA263-6ADA-4FD5-8FE5-AFD35FCED280Q44813815-EC7F7074-0861-46B1-B7E8-390D04F3A29EQ45314485-C8D9EAE9-90F0-4258-A241-2DB9BE3CAB53Q50288997-C596797F-52CF-4C76-B57A-DCE53A512594Q50296228-A27BDA6D-73BC-4250-B547-8E52274795FE
P2860
The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.
description
2000 nî lūn-bûn
@nan
2000 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
The spectrum of SLC17A5-gene m ...... genotype-phenotype correlation
@nl
The spectrum of SLC17A5-gene m ...... enotype-phenotype correlation.
@ast
The spectrum of SLC17A5-gene m ...... enotype-phenotype correlation.
@en
type
label
The spectrum of SLC17A5-gene m ...... genotype-phenotype correlation
@nl
The spectrum of SLC17A5-gene m ...... enotype-phenotype correlation.
@ast
The spectrum of SLC17A5-gene m ...... enotype-phenotype correlation.
@en
prefLabel
The spectrum of SLC17A5-gene m ...... genotype-phenotype correlation
@nl
The spectrum of SLC17A5-gene m ...... enotype-phenotype correlation.
@ast
The spectrum of SLC17A5-gene m ...... enotype-phenotype correlation.
@en
P2093
P2860
P356
P1476
The spectrum of SLC17A5-gene m ...... enotype-phenotype correlation.
@en
P2093
Månsson JE
Peltonen L
Salomäki P
Verheijen F
P2860
P304
P356
10.1086/303077
P407
P577
2000-08-17T00:00:00Z