Results 81 to 90 of about 2,264 (140)

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation. [PDF]

Mol Genet Metab, 2023
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E.   +9 more
europepmc   +1 more source

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. [PDF]

Hum Genet, 2023
Kiparissi F, Dastamani A, Palm L, Azabdaftari A, Campos L, Gaynor E, Grünewald S, Uhlig HH, Kleta R, Böckenhauer D, Jones KDJ.   +10 more
europepmc   +1 more source

Additional file 1 of Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

, 2020
Additional file 1: Figure S1. Layout showing the metabolic fate of mannose in mammalian cells. PMM2 is an essential enzyme catalyzing the conversion of mannose-6-phosphate to mannose-1- phosphate, which is the first step in the synthesis. Figure S2.
Taday, Roman, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten   +4 more
openaire   +1 more source

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

Frontiers in Immunology
Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response.
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Rita Francisco, Rita Francisco, Rita Francisco, Patrícia Mexia, Patrícia Mexia, Patrícia Mexia, Beatriz Luís Pereira, Beatriz Luís Pereira, Beatriz Luís Pereira, Pedro Granjo, Pedro Granjo, Pedro Granjo, Helena Coelho, Helena Coelho, Mariana Barbosa, Mariana Barbosa, Mariana Barbosa, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula Alexandra Videira, Paula Alexandra Videira, Paula Alexandra Videira   +25 more
doaj   +1 more source

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

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   +1 more source

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Orphanet Journal of Rare Diseases
Background Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni   +10 more
doaj   +1 more source

Efficient production of 2′-fucosyllactose from fructose through metabolically engineered recombinant Escherichia coli

Microbial Cell Factories
Background The biosynthesis of human milk oligosaccharides (HMOs) using several microbial systems has garnered considerable interest for their value in pharmaceutics and food industries.
Ran You, Lei Wang, Meirong Hu, Yong Tao
doaj   +1 more source

AAV-based gene replacement reverses Neurexin-2 downregulation in the cerebellum of a mouse model of phosphomannomutase 2 deficiency (PMM2-CDG)

Abstract Phosphomannomutase 2 (PMM2) deficiency is the most common congenital disorders of glycosylation (CDG) with an estimated incidence ranging from 1:20,000 to 1:80,000. Patients manifest a broad spectrum of clinical manifestations, with neurological deficits often emerging as the earliest sign, and may progress ...
Zhong, M, Lai, K
openaire   +2 more sources

A Mild Ataxia-Dominant Phenotype of Phosphomannomutase 2-Congenital Disorder of Glycosylation in a Tunisian Family: Broadening the Geographical Scope. [PDF]

J Mov Disord
Zouari R, Hlioui L, Saied MZ, Ben Mohamed D, Ben Sassi S, Amouri R.   +5 more
europepmc   +1 more source

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   +1 more source