Results 21 to 30 of about 7,542 (179)

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

BMC Medical Genetics, 2018
Background Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked ...
Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower, Mary Ella Pierpont   +7 more
doaj   +1 more source

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial

Orphanet Journal of Rare Diseases, 2021
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients.
Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava   +7 more
doaj   +1 more source

Insights into complexity of congenital disorders of glycosylation

Biochemia Medica, 2012
Biochemical and biological properties of glycoconjugates are strongly determined by the specific structure of its glycan parts. Glycosylation, the covalent attachment of sugars to proteins and lipids, is very complex and highly-coordinated process involving > 250 gene products.
Supraha Goreta, Sandra, Dabelic, Sanja, Dumic, Jerka   +2 more
openaire   +6 more sources

Mannose supplementation in PMM2-CDG

Orphanet Journal of Rare Diseases, 2021
In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG.
Roman Taday, Julien H. Park, Marianne Grüneberg, Ingrid DuChesne, Janine Reunert, Thorsten Marquardt   +5 more
doaj   +1 more source

Establishment of a human induced pluripotent stem cell line（SDQLCHi059-A）from a patient with congenital disorder of glycosylation carrying heterozygous mutation in MPI gene

Stem Cell Research
Congenital disorder of glycosylation (CDG) is inherited metabolic disease caused by defects in the genes important for the process of protein and lipid glycosylation.
Bin Wang, Lu Yang, Min Gao, Haiyan Zhang, Yi Liu, Zhongtao Gai   +5 more
doaj   +1 more source

GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT

Педиатрическая фармакология, 2008
The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of ...
Yu.S. Akoev, A.V. Migali, N.V. Zhurkova, O.B. Kondakova, E.A. Roslavtseva, A.R. Pinaeva, V.A. Skvortsova, I.I. Migali   +7 more
doaj   +2 more sources

Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature

Therapeutic Advances in Rare Disease, 2022
Mannose phosphate isomerase–congenital disorder of glycosylation (MPI-CDG) is a CDG presenting with a clinically recognizable presentation, including early hypoglycemia, coagulation defects, and gastrointestinal and hepatic symptoms.
Diederik De Graef, Jehan Mousa, Marta Biderman Waberski, Eva Morava   +3 more
doaj   +1 more source

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

Journal of Investigative Medicine High Impact Case Reports, 2023
Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid.
Hamed Ghoshouni MD, Roham Sarmadian MD, Rana Irilouzadian MD, Habibe Nejad Biglari MD, Abolfazl Gilani MD   +4 more
doaj   +1 more source

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

Nature Communications, 2021
Mutations in genes critical for proper intra-Golgi transport can cause human syndromes due to defects in glycosylation of proteins. Here, the authors identify a human variant of Syntaxin-5 that causes fatal multisystem disease and mislocalization of ...
Peter T. A. Linders, Eveline C. F. Gerretsen, Angel Ashikov, Mari-Anne Vals, Rinse de Boer, Natalia H. Revelo, Richard Arts, Melissa Baerenfaenger, Fokje Zijlstra, Karin Huijben, Kimiyo Raymond, Kai Muru, Olga Fjodorova, Sander Pajusalu, Katrin Õunap, Martin ter Beest, Dirk Lefeber, Geert van den Bogaart   +17 more
doaj   +1 more source

Malectin Alleviates Endoplasmic Reticulum Stress in Gestational Diabetes Mellitus via Glycoprotein Quality Control Mechanisms

Advanced Science, EarlyView.
Malectin alleviates high glucose‐induced ER stress and damage in placental trophoblasts, a function dependent on its six critical carbohydrate‐binding residues. In a GDM mouse model, administration of TAT‐Malectin ameliorated hyperglycemia and placental ER stress and prevented fetal macrosomia.
Jiahui Zhu, Yumeng Zhang, Ye Wang, Xiaoyu Zhu, Ailin Yuan, Weijing Yin, Huangmin Yu, Xuemin Pang, Yufeng He, Yuchen Wang, Tong Wang, Yong Li, Yunlong Si   +12 more
wiley   +1 more source