Results 31 to 40 of about 2,410 (179)

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications

Annals of Neurology, 2021
OBJECTIVE: Epalrestat, an aldose reductase inhibitor increases phosphomannomutase (PMM) enzyme activity in a PMM2-congenital disorders of glycosylation (CDG) worm model. Epalrestat also decreases sorbitol level in diabetic neuropathy.
Mercimek-Andrews, Saadet, Christina Lam, McGovern, Renee M., Renee M. McGovern, David Cassiman, Saraswat, Mayank, Andrew C. Edmondson, Kimiyo Raymond, Akhilesh Pandey, Larson, Austin, Christin Johnsen, Cassiman, David, Wasantha Ranatunga, Joel M. Reid, Devin Oglesbee, Yanaihara, Hitoshi, Hitoshi Yanaihara, William Brucker, Muthusamy, Karthik, Edmondson, Andrew C., Wirginia Krzysciak, Graeme Preston, Raymond, Kimiyo, Peter Witters, Radenkovic, Silvia, Lam, Christina, Krzysciak, Wirginia, Kozicz, Tamas, Brucker, William, Perlstein, Ethan O., Ranatunga, Wasantha, Oglesbee, Devin, Garapati, Kishore, Reid, Joel M., Witters, Peter, Kishore Garapati, Ghesquiere, Bart, Pandey, Akhilesh, Mayank Saraswat, Eva Morava, Bart Ghesquière, Ligezka, Anna N., Johnsen, Christin, Morava, Eva, Karthik Muthusamy, Silvia Radenkovic, Austin Larson, Preston, Graeme, Saadet Mercimek‐Andrews, Ethan O. Perlstein, Anna N. Ligezka, Tamas Kozicz   +51 more
core   +5 more sources

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes [PDF]

Frontiers in Endocrinology
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini, Elena Barbieri, Elena Barbieri, Rita Barone, Rita Barone, Renzo Guerrini, Renzo Guerrini, Amelia Morrone, Amelia Morrone, Stefano Stagi, Stefano Stagi   +13 more
doaj   +2 more sources

Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG

Journal of Inherited Metabolic Disease, 2013
The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor function,
Alki Liasis, Ruth J. Lyons, Thompson, Dorothy A., Lyons, Ruth J., Herbert Jägle, Stephanie Grünewald, Jägle, Herbert, Russell‐Eggitt, Isabelle, Isabelle Russell‐Eggitt, Liasis, Alki, Grünewald, Stephanie, Dorothy A. Thompson   +11 more
core   +3 more sources

Three families with mild PMM2-CDG and normal cognitive development [PDF]

American Journal of Medical Genetics Part A, 2017
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable.
Teeäär, Kai, Zordania, Riina, Vals, Mari-Anne, Pajusalu, Sander, Lefeber, Dirk J., Õunap, Katrin, Morava, Eva   +6 more
core   +4 more sources

Sugar-bisphosphates to cure PMM2-CDG?

, 2021
INTRODUCTION PMM2-CDG is the most common congenital disorder of glycosylation (CDGs). It is caused by mutations in the gene PMM2, encoding the enzyme phosphomannomutase-2 (PMM2).
M Allocca, M Monticelli, G Andreotti, MV Cubellis   +3 more
core   +2 more sources

Polymorphic variants of ABCA1, PMM2, and ARHGEF12 genes and the risk of glaucoma in an Iranian population [PDF]

International Journal of Ophthalmology
AIM: To examine whether rs2472493 and rs248032 in the ABCA1 gene, rs3785176 in the PMM2 gene, and rs11827818 in the ARHGEF12 gene contribute to primary open angle glaucoma (POAG) in an Iranian population. METHODS: Totally 82 POAG patients and 172 healthy
Asghar Shayannia, Kobra Foroughi, Mohammad Hassan Emamian, Hassan Hashemi, Akbar Fotouhi   +4 more
doaj   +2 more sources

Unsuccessful intravenous D-mannose treatment in PMM2-CDG [PDF]

Orphanet Journal of Rare Diseases, 2019
Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life.
Sarah C. Grünert, Thorsten Marquardt, Ekkehart Lausch, Hans Fuchs, Christian Thiel, Martin Sutter, Anke Schumann, Luciana Hannibal, Ute Spiekerkoetter   +8 more
doaj   +4 more sources

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

PMM2-CDG: Phenotype and genotype in four affected family members

Gene, 2013
Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycosylation. PMM2-CDG is the most prevalent protein N-glycosylation disorder with more than 700 reported patients.
Cosentini, Dora, Faletra, Flavio, DE MARTINO, ELEONORA, Biffi, Stefania, Carrozzi, Marco, Bortot, Barbara, Severini, Giovanni Maria   +6 more
core   +4 more sources

PMM2-CDG and nephrotic syndrome: a case report. [PDF]

Clinical Case Reports, 2021
CDG are a group of diseases altering the glycosylation process. Enzymes involved have ubiquitous distribution with systemic involvement and high phenotypic variability. We report the case of a girl with central hypotonia, epilepsy and severe psychomotor delay diagnosed with phosphomannomutase 2 deficiency (PMM2-CDG) after presenting with nephrotic ...
Banderali, Giuseppe, Salvatici, Elisabetta, Rovelli, Valentina, Jaeken, Jaak   +3 more
openaire   +5 more sources