Results 31 to 40 of about 15,514 (222)

PHOSPHOMANNOMUTASE 2-CONGENITAL DISORDER OF GLYCOSYLATION: A CASE REPORT AND LITERATURE REVIE [PDF]

精准医学杂志, 2023
Objective To investigate the clinical and genetic features of patients with phosphomannomutase 2 (PMM2)-congenital disorder of glycosylation (CDG), and to provide a basis for the early diagnosis of PMM2-CDG. Methods A retrospective analysis was performed
WMENG Qiutong, ZHANG Tian, RAN Ni, YANG Zhaochuan, FU Peng, SHAN Yanchun
doaj   +1 more source

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

Subcellular localization of the five members of the human steroid 5α-reductase family [PDF]

, 2017
In humans the steroid 5a-reductase (SRD5A) family comprises five integral membrane enzymes that carry out reduction of a double bond in lipidic substrates: D4-3-keto steroids, polyprenol and trans-enoyl CoA.
Asteriti, ITALIA ANNA, Bruni, Renato, Cerutti, Gabriele, Lavia, Patrizia, Mancia, Filippo, Montemiglio, LINDA CELESTE, Parisi, Giacomo, Savino, Carmelinda, Scaglione, Antonella, Testi, Claudia, Vallone, Beatrice   +10 more
core   +3 more sources

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

Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation [PDF]

, 2013
BACKGROUND: Congenital disorders of glycosylation (CDGs) are inherited diseases caused by glycosylation defects. Incorrectly glycosylated proteins induce protein misfolding and endoplasmic reticulum (ER) stress.
Huaxi Xu, Hudson H Freeze, Kun Zhou, Liangwu Sun, Yingjun Zhao, Yun-wu Zhang   +5 more
core   +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

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation [PDF]

, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Bliss, E, Carreno, G, Clayton, PT, Grunewald, S, Heywood, WE, Mills, K, Mills, P, Muntoni, F, Sebire, NJ, Torelli, S, Worthington, VC, Yuzugulen, J   +11 more
core   +2 more sources