Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development
about
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-IcDeficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type IgLack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1AA novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharideDeficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type IeCarbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferaseX-ray crystal structure of rabbit N-acetylglucosaminyltransferase I: catalytic mechanism and a new protein superfamilyCCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationEssential and mutually compensatory roles of {alpha}-mannosidase II and {alpha}-mannosidase IIx in N-glycan processing in vivo in miceAn unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia.Tempo and mode of gene duplication in mammalian ribosomal protein evolution.The congenital disorders of glycosylation: a multifaceted group of syndromes.Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.Substrate specificities and intracellular distributions of three N-glycan processing enzymes functioning at a key branch point in the insect N-glycosylation pathwayPhysiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function."Orphan" retrogenes in the human genome.Metabolism, cell surface organization, and disease.Regulation of expression of the human beta-1,2-N-acetylglucosaminyltransferase II gene (MGAT2) by Ets transcription factors.Biological roles of glycans.Synthesis of paucimannose N-glycans by Caenorhabditis elegans requires prior actions of UDP-N-acetyl-D-glucosamine:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I, alpha3,6-mannosidase II and a specific membrane-bound beta-N-acetylglucCaenorhabditis elegans triple null mutant lacking UDP-N-acetyl-D-glucosamine:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I.Defective MGAT2 causes MGAT2-CDG (CDG-2a)Defective MGAT2 does not transfer GlcNAc to N-glycansAddition of a GlcNAc on the alpha 1;4 branch by MGAT2Human N-acetylglucosaminyltransferase II substrate recognition uses a modular architecture that includes a convergent exosite.The Modulatory Roles of N-glycans in T-Cell-Mediated Autoimmune Diseases.
P2860
Q22009951-CC84F37E-6F7E-422F-9979-4021D2CDB419Q24534595-AFBECB5E-9134-4519-A95E-5E5C7EA06278Q24538812-188E5E81-21FC-4F1E-8FF3-5DB155015D88Q24564591-32E1B9E2-1641-4F04-954D-8D0B226A6E99Q24621090-23BDFC53-4EE8-4E1E-B3EA-514C87AF52EDQ24642154-94F14336-9EAB-4161-9B14-2318CC672E94Q27627480-1EC55E0B-85C4-49F9-BA74-301DFDF399BEQ28114831-19AA67AC-1826-40FB-B9E1-71B9195CAEB9Q28588133-5C412235-0BC2-421E-868F-C0C7512882C0Q30497960-02F0ECA1-6690-4A38-A782-A11FF2035086Q34450599-0D8DB7FA-B348-41AD-9EB1-366388CA2408Q34504298-FC5BA542-1074-45CB-A43A-42D1F0E0FC49Q34789899-D09540EA-6B91-4D9B-BB8C-195971F93ADEQ35801895-1BBDB901-C4EC-401C-829D-266C9529CE5CQ35981911-22AE03B0-C240-4C0C-A4CE-421E6FE2B873Q36543196-A0070BEB-99C5-45D1-9AA7-AEE923876A05Q37671886-02DAE502-21F2-48F6-B2BE-8339F3E81487Q38313554-F4BD20BC-46F1-4F1F-9449-FB0E083DE795Q38936714-8F600FB6-374F-442E-98A8-0824373383A1Q42088439-2B38742C-3A25-42A3-BEEE-A18B33506C95Q42807700-3781C0AF-AE82-46C2-A77E-EFD4AB24DFDFQ45316541-80DFCC44-8426-4291-BCBB-1BDDD9F34193Q50289221-AB6DA0FE-0D1D-4E65-96D4-5DFB26CD00ABQ50296334-28C276E2-06CD-49D7-B09B-B442E1A30B7CQ52318683-CE8463A5-FAC9-44A2-94A5-D283E1C4CC22Q55025713-12D1F446-71CA-4928-9A54-2A2660CF2DF5
P2860
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development
description
1996 nî lūn-bûn
@nan
1996 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Mutations in the MGAT2 gene co ...... th defective brain development
@ast
Mutations in the MGAT2 gene co ...... th defective brain development
@en
Mutations in the MGAT2 gene co ...... th defective brain development
@nl
type
label
Mutations in the MGAT2 gene co ...... th defective brain development
@ast
Mutations in the MGAT2 gene co ...... th defective brain development
@en
Mutations in the MGAT2 gene co ...... th defective brain development
@nl
prefLabel
Mutations in the MGAT2 gene co ...... th defective brain development
@ast
Mutations in the MGAT2 gene co ...... th defective brain development
@en
Mutations in the MGAT2 gene co ...... th defective brain development
@nl
P2093
P2860
P921
P1476
Mutations in the MGAT2 gene co ...... th defective brain development
@en
P2093
P2860
P304
P407
P577
1996-10-01T00:00:00Z