Results 21 to 30 of about 2,264 (140)

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

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Although several clinical trials are ongoing, current biomarkers lack prognostic or monitoring utility ...
Epifani F, Cabus L, Nolasco GA, Bolasell M, Pérez J, Alcalá A, Fernández P, Lizano E, Márquez G, Belmonte S, Carbonell-Sala S, Lagarde J, Curado J, Hernando-Davalillo C, Serrano M.   +14 more
europepmc   +2 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

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi, 2023
Phosphomannomutase 2 deficiency is the most common form of N-glycosylation disorders and is also known as phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It is an autosomal recessive disease with multi-system involvements and is caused by mutations in the PMM2 gene (OMIM: 601785), with varying severities in individuals. At present,
Zhou SY.
europepmc   +3 more sources

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

Eur J Hum Genet, 2014
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Jaeken J, Lefeber D, Matthijs G.
europepmc   +5 more sources

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures [PDF]

Journal of Inherited Metabolic Disease, 2021
AbstractPhosphomannomutase 2 (PMM2) deficiency, the most frequent congenital disorder of glycosylation (PMM2‐CDG), is a severe condition, which has no cure. Due to the identification of destabilizing mutations, our group aims at increasing residual activity in PMM2‐CDG patients, searching for pharmacochaperones.
Alvaro Briso‐Montiano, Francisco Del Caño‐Ochoa, Alicia Vilas, Adrián Velázquez‐Campoy, Vicente Rubio, Belén Pérez, Santiago Ramón‐Maiques   +6 more
openaire   +3 more sources

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]

Mol Genet Metab, 2021
PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and ...
Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K.   +17 more
europepmc   +6 more sources

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation. [PDF]

JCEM Case Rep
Abstract Phosphomannomutase 2–congenital disorder of glycosylation (PMM2-CDG) is a hereditary defect causing hypoglycosylation of N-linked glycoproteins. It was recently suggested that patients with PMM2-CDG may have central adrenal insufficiency.
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +4 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

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