Results 51 to 60 of about 1,300 (164)

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

Defeitos congénitos da glicosilação [PDF]

, 2022
Congenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but
Bandeira, Anabela, Correia, Joana, Martins, Esmeralda, Mendes, Ana Raquel, Paiva Coelho, Margarida, Quelhas, D   +5 more
core   +1 more source

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation [PDF]

, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Bliss, E, Carreno, G, Clayton, PT, Grunewald, S, Heywood, WE, Mills, K, Mills, P, Muntoni, F, Sebire, NJ, Torelli, S, Worthington, VC, Yuzugulen, J   +11 more
core   +2 more sources

Drug Repositioning for Congenital Disorders of Glycosylation (CDG) [PDF]

, 2022
R.F. and acknowledge the funding from the Fundação para a Ciência e Tecnologia (FCT), Portugal. S.B. was supported by CDG & Allies—PAIN funding. M.A. acknowledges PhD program at the DISTABIF, Università degli Studi della Campania “Luigi Vanvitelli”, PhD
Allocca, Mariateresa, Andreotti, Giuseppina, Brasil, Sandra, Ferreira, Vanessa Dos Reis, Francisco, Rita, Jaeken, Jaak, Kantautas, Kristin A., Magrinho, Salvador C.M., Martins, Tiago, Pascoal, Carlota, Pereira, Florbela, Perlstein, Ethan O., Raposo, Madalena, Santos, Inês, Videira, Paula A.   +14 more
core   +3 more sources

N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus [PDF]

, 2014
Glükosüülimise kaasasündinud defektid on kiiresti kasvav, erinevaid elundisüsteeme haarav ainevahetushaiguste rühm. Glükosüülimine on valkude modifitseerimise protsess, mille tulemusel sünteesitakse glükoproteiin.
Joost, Kairit, Maipuu, Lea, Vals, Mari-Anne, Õunap, Katrin   +3 more
core   +2 more sources

Kaasasündinud N-glükosüülimise haigused Eestis [PDF]

, 2018
Väitekirja elektrooniline versioon ei sisalda publikatsiooneKaasasündinud glükosüülimise haigused (KGH) moodustavad kiirelt areneva ainevahetushaiguste grupi ning on põhjustatud valkude ja lipiididega seotud glükaanide häirunud sünteesist.
Andres Gabriel Sanchez Comas, Anneli Nyman, Chris Nugent, Federico Cruciani, Ian Cleland, Josef Hallberg, Kåre Synnes, Macarena Espinilla, Margareta Lilja, Niklas Karvonen, Wagner Ourique de Morais, Zhoe Comas-Gonzalez   +11 more
core   +2 more sources

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). [PDF]

PLoS ONE, 2016
PMM2-CDG is the most common N-glycosylation defect and shows an increased risk of recurrent and/or severe, sometimes fatal, infections in early life. We hypothesized that natural killer (NK) cells, as important mediators of the immune response against ...
Roberto García-López, María Eugenia de la Morena-Barrio, Laia Alsina, Belén Pérez-Dueñas, Jaak Jaeken, Mercedes Serrano, Mercedes Casado, Trinidad Hernández-Caselles   +7 more
doaj   +1 more source

Patient-reported outcomes and quality of life in PMM2-CDG

Molecular Genetics and Metabolism, 2022
Patient-reported outcomes (PROs) measure important aspects of disease burden, however they have received limited attention in the care of patients with Congenital Disorders of Glycosylation (CDG). We evaluated the PROs and correlation between clinical disease severity scoring and reported quality of life (QoL) in a PMM2-CDG patient cohort.
Anna N, Ligezka, Anab, Mohamed, Carlota, Pascoal, Vanessa Dos Reis, Ferreira, Suzanne, Boyer, Christina, Lam, Andrew, Edmondson, Wirginia, Krzysciak, Raphael, Golebiowski, Judit, Perez-Ortiz, Eva, Morava   +10 more
openaire   +3 more sources

Epileptic Spasms in Congenital Disorders of Glycosylation [PDF]

, 2017
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and ...
Bahi-Buisson, N, Barnerias, C, Boddaert, N, de Lonlay, P, Eisermann, M, Kaminska, A, Nabbout, R, Pereira, AG   +7 more
core   +1 more source

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature

JIMD Reports, 2020
Background Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies.
Zhen Qian, Jef Van den Eynde, Stephane Heymans, Luc Mertens, Eva Morava   +4 more
doaj   +1 more source