Results 31 to 40 of about 25,010,716 (171)

Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model [PDF]

Disease Models & Mechanisms, 2016
Congenital disorders of glycosylation (CDGs) constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins.
William M. Parkinson, Michelle Dookwah, Mary Lynn Dear, Cheryl L. Gatto, Kazuhiro Aoki, Michael Tiemeyer, Kendal Broadie   +6 more
doaj   +3 more sources

Construction of Yeast One-Hybrid Library of Dendrobium huoshanense and Screening of Potential Transcription Factors Regulating DhPMM Gene Expression [PDF]

Biomolecules
Dendrobium huoshanense, an endangered orchid species, is renowned for its polysaccharides with vast pharmacological significance in stems. Phosphomannomutase (PMM) critically regulates polysaccharide accumulation.
Jing Wu, Shuting Wang, Shihai Xing, Daiyin Peng   +3 more
doaj   +2 more sources

High conformational flexibility of phosphomannomutase 2: Implications for functioning mechanisms, stability and pharmacological chaperone design

bioRxiv
Phosphomannomutase 2 (PMM2) is a critical enzyme in the N-glycosylation pathway, and its defect is the cause of the most common congenital disorder of glycosylation. Despite its biological relevance, the understanding of PMM2 is limited, as the catalytic
F. del Caño-Ochoa, Marçal Vilar, A. Vilas, R. Company, Belén Pérez, Santiago Ramón-Maiques   +5 more
semanticscholar   +2 more sources

Nrf2 activation attenuates genetic endoplasmic reticulum stress induced by a mutation in the phosphomannomutase 2 gene in zebrafish. [PDF]

Proc Natl Acad Sci U S A, 2018
Mukaigasa K, Tsujita T, Nguyen VT, Li L, Yagi H, Fuse Y, Nakajima-Takagi Y, Kato K, Yamamoto M, Kobayashi M.   +9 more
europepmc   +2 more sources

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia.

Journal of the Neurological Sciences, 2017
Fil: Rossi, Malco Damian. Fundacion para la Lucha contra las Enfermedades Neurologicas de la Infancia; Argentina.
M. Rossi, Alex Medina Escobar, Lucía Ameghino, M. Merello   +3 more
semanticscholar   +3 more sources

Clinical utility gene card for: Phosphomannomutase 2 deficiency. [PDF]

Eur J Hum Genet, 2014
Item does not contain ...
Jaeken J, Lefeber D, Matthijs G.
europepmc   +5 more sources

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG [PDF]

Scientific Reports
Phosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients.
Renata Mangione, Lara Cirnigliaro, Miriam Wissam Saab, Fabio Pettinato, Alessandro Barbato, Alfio Distefano, Enrico La Spina, Giuseppe Lazzarino, Giovanni Li Volti, Lucia Longhitano, Daniele Tibullo, Alessandra Pittalà, Cesarina Giallongo, Valentina Di Pietro, Giovanni Tabbi, Salvatore Antonio Longo, Andrea Graziani, Barbara Tavazzi, Angela Maria Amorini, Giacomo Lazzarino, Rita Barone   +20 more
doaj   +2 more sources

Computational Investigation of Smooth Muscle Cell Plasticity in Atherosclerosis and Vascular Calcification: Insights from Differential Gene Expression Analysis of Microarray Data [PDF]

Bioengineering
The dedifferentiation of smooth muscle cells (SMCs) is the main cause of atherosclerosis and vascular calcification. This study integrated the gene expression data of multiple microarrays to identify relevant marker molecules.
Daniel Liu, Jimmy Kuo, Chorng-Horng Lin
doaj   +2 more sources

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. [PDF]

Clin Chem, 2016
Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M.   +16 more
europepmc   +2 more sources

Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation

Frontiers in Immunology, 2022
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans.
Paola de Haas, Marien I. de Jonge, Hans J. P. M. Koenen, Ben Joosten, Mirian C. H. Janssen, Mirian C. H. Janssen, Lonneke de Boer, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Dirk J. Lefeber, Alessandra Cambi   +10 more
doaj   +1 more source