Results 91 to 100 of about 3,871 (190)
The FASEB Journal, 2013 Congenital Disorders of Glycosylation (CDGs) are rare diseases characterized by wide spectrum clinical abnormalities and impaired glycosylation. The most common CDG subtype, PMM2‐CDG, results from mutations in PMM2, which encodes the phosphomannomutase (pmm) enzyme that converts mannose‐6‐P (M6P) to mannose‐1‐P (M1P).
Richard Anthony Steet +4 more
openaire +1 more source
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. [PDF]
Hum MutatWe report on the largest single dataset of patients with PMM2‐CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studies, report on novel findings, and, additionally, examine potential genotype/phenotype correlations.
Pajusalu S +24 more
europepmc +6 more sources
Orphanet Journal of Rare Diseases, 2021 Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska +6 more
doaj +1 more source
JA Clinical Reports, 2017 Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai +3 more
doaj +1 more source
Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón +33 more
wiley +1 more source
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 +6 more
doaj +1 more source
Ab initio study of the phase diagram of epitaxial BaTiO3
, 2004 Using a combination of first-principles and effective-Hamiltonian approaches, we map out the structure of BaTiO3 under epitaxial constraints applicable to growth on perovskite substrates. We obtain a phase diagram in temperature and misfit strain that is
A. Antons +9 more
core +1 more source
Advanced Materials, Volume 37, Issue 39, October 2, 2025.Reconfigurable physical unclonable function (PUF) integrating optical and electrical responses in organic field‐effect transistor is developed by using unique optical fingerprint textures and random molecular alignment of the semiconductive smectic liquid crystal. This approach enhances security by enabling hierarchical authentication, providing robust
Hee Seong Yun +8 more
wiley +1 more source
Exploration, Volume 5, Issue 5, October 2025.In this study, Zhang and colleagues show that drinking‐water supplementation of D‐mannose serves as an effective and potential therapeutic of type 2 diabetes, with improvement of both liver health and bone mass. The effect is exerted through suppressing macrophage release of extracellular vesicles based on metabolic control of CD36 expression.
Sha Zhang +21 more
wiley +1 more source
Phosphomannomutase deficiency (PMM2-CDG)
, 2015 Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
Serrano, Mercedes +23 more
openaire +1 more source