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Human Proteoglycan Linkage Region Glycosyltransferases are Dimeric and Show Une…

Weidler(S),Bundgaard(O),Hessefort(M),Rädisch… Angew Chem Int Ed Engl 2026-01-16

...B4GalT7, B3GalT6 and B3GlcAT-1 as N-terminal SUMO-fusions gave high yields of soluble and active enzymes in E. coli. Whe...

A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, …

Jones(Kelly L),Schwarze(Ulrike),Adam(Margare… Am J Med Genet A 2016-08-29

...B4GALT7, B3GALT6, and B3GAT3.

Basing RNA-seq explored the regulatory mechanism of the carbohydrate metabolism…

Lian(Chao),Zuo(Qisheng),Li(Dong),Zhang(Lei),… In Vitro Cell Dev Biol Anim 2016-05-31

...B4GALT7 which was significantly expressed in CS pathway. Quantitative RT-PCR showed that the expression trend of these g...

Understanding of altered N-glycosylation-related gene expression in recombinant…

Ha(Tae Kwang),Kim(Yeon-Gu),Lee(Gyun Min) Biotechnol Bioeng 2016-03-14

...b4galt7, st3gal2, st3gal5, glb1, hexa, hexb, neu1, and neu3) were up-regulated over 1.5 times in the culture with ammoni...

Skeletal dysplasia, global developmental delay, and multiple congenital anomali…

von Oettingen(Julia E),Tan(Wen-Hann),Dauber(… Am J Med Genet A 2015-01-13

...B4GALT7. He has bilateral inguinal hernias and atlanto-axial as well as atlanto-occipital instability that have not been...

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutat…

Cartault(François),Munier(Patrick),Jacquemon… Eur J Hum Genet 2015-08-05

...B4GALT7, NM_007255.2: c.808C>T p.(Arg270Cys) named p.R270C, in the two affected cases, not present in the unaffected sis...

Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth p…

Guo(Michael H),Stoler(Joan),Lui(Julian),Nils… Am J Med Genet A 2014-05-15

...B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have been associated with the rare progeroid var...

Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.

Miyake(Noriko),Kosho(Tomoki),Matsumoto(Naomi… Adv Exp Med Biol 2014-05-29

...B4GALT7 or B3GALT6, both of which encode key enzymes that initiate glycosaminoglycan (GAG) synthesis. D4ST1-deficient ED...

Generation of the Sotos syndrome deletion in mice.

Migdalska(Anna M),van der Weyden(Louise),Ism… Mamm Genome 2013-06-05

...B4galt7), syntenic with 5q35.2-q35.3 in humans (Df(13)Ms2Dja ( +/- ) m...

Attachment of Chlamydia trachomatis L2 to host cells requires sulfation.

Rosmarin(David M),Carette(Jan E),Olive(Andre… Proc Natl Acad Sci U S A 2012-09-10

...B4GALT7, and SLC35B2, which encode glucuronosyltransferase I, galactosyltransferase I, and the 3'-phosphoadenosine 5'-ph...

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