Results 41 to 50 of about 25,010,716 (171)

Metabolic Deregulation in Pulmonary Hypertension

Current Issues in Molecular Biology, 2023
The high morbidity and mortality rate of pulmonary arterial hypertension (PAH) is partially explained by metabolic deregulation. The present study complements our previous publication in “Genes” by identifying significant increases of the glucose ...
Rajamma Mathew, Sanda Iacobas, Jing Huang, Dumitru Andrei Iacobas   +3 more
doaj   +1 more source

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. [PDF]

Biochim Biophys Acta, 2009
Phosphomannomutase (PMM2, Mannose-6-P--> Mannose-1-P) deficiency is the most frequent glycosylation disorder affecting the N-glycosylation pathway. There is no therapy for the hundreds of patients who suffer from this disorder. This review describes previous attempts at therapeutic interventions and introduces perspectives emerging from the drawing ...
Freeze HH.
europepmc   +4 more sources

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Frontiers in Genetics, 2020
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Petr Jabandziev, Ondrej Slaby, Ondrej Slaby, Dagmar Prochazkova, Dagmar Prochazkova   +14 more
doaj   +1 more source

Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. [PDF]

Mol Cell Biol, 2006
Mutations in the cytosolic enzyme phosphomannomutase 2 (PMM2), which catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate, cause the most common form of congenital disorders of glycosylation, termed CDG-Ia. It is an inherited multisystemic disease with severe neurological impairment.
Thiel C, Lübke T, Matthijs G, von Figura K, Körner C.   +4 more
europepmc   +6 more sources

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
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

PMM2‐CDG and nephrotic syndrome: A case report

Clinical Case Reports, 2022
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by a defect in the protein glycosylation process. Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can ...
Giuseppe Banderali, Elisabetta Salvatici, Valentina Rovelli, Jaak Jaeken   +3 more
doaj   +1 more source

Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.

Endocrine journal, 2021
Primary ovarian insufficiency (POI) is a highly heterogeneous condition, and its underlying causes remain to be clarified in a large fraction of patients.
Yohei Masunaga, M. Mochizuki, Machiko Kadoya, Y. Wada, N. Okamoto, M. Fukami, Fumiko Kato, H. Saitsu, T. Ogata   +8 more
semanticscholar   +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

Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG

Molecular Genetics and Metabolism Reports, 2021
We report on a Mexican mestizo with a multisystemic syndrome including neurological involvement and a type I serum transferrin isoelectric focusing (Tf IEF) pattern.
C.A. González-Domínguez, C.E. Villarroel, M. Rodríguez-Morales, S. Manrique-Hernández, A. González-Jaimes, F. Olvera-Rodriguez, K. Beutelspacher, C. Molina-Garay, K. Carrillo-Sánchez, L.L. Flores-Lagunes, M. Jiménez-Olivares, A. Muñoz-Rivas, M.E. Cruz-Muñoz, H.M. Mora-Montes, R. Salinas-Marín, C. Alaez-Verson, I. Martínez-Duncker   +16 more
doaj   +1 more source