Results 131 to 140 of about 1,300 (164)

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology

AbstractCongenital disorders of glycosylation (CDG) are a group of neurogenetic conditions resulting from disruptions in the cellular glycosylation machinery. The majority of CDG patients have compound heterozygous pathogenic variants in the phosphomannomutase 2 (PMM2)gene.
Andrew C. Edmondson, Rohit Budhraja, Zijie Xia, Ashley Melendez-Perez, Cadmus Cai, Silvia Radenkovic, Ashley M. Collins, Emily J. Shiplett, Sophie F. Hill, Ala Somarowthu, Johanna Dam, Ling-Lin Pai, Mariarita Santi, Seonhee Kim, Miao He, Ethan M. Goldberg, Tamas Kozicz, Eva Morava, Akhilesh Pandey, Zhaolan Zhou   +19 more
openaire   +1 more source

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies. [PDF]

Arch Iran Med
Alagha P, Akhtarkhavari T, Shokouhian E, Ghodratpour F, Arzhangi S, Najmabadi H, Kahrizi K.   +6 more
europepmc   +1 more source

Defeitos congénitos de glicosilação (cdg) em portugal: a ponta do iceberg [PDF]

, 2014
Jaeken, J, Lacerda, L, Laranjeira, F, Matthijs, G, Quelhas, Dulce, Sousa, D   +5 more
core  

Epistasis in glycosylation proteins - impact on Congenital Disorders of Glycosylation [PDF]

, 2023
Maria Dulce da Silva Quelhas
core  

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG)

Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding Ca2.1 channel). The underlying pathomechanisms are unknown.
Izquierdo-Serra, Mercè||, Martínez-Monseny, Antonio F., López López, Laura||, Carrillo-García, Julia, Edo Salvador, Ángel, Ortigoza-Escobar, Juan Darío, García Campos, Óscar, Cancho-Candela, Ramón||, Carrasco-Marina, M. Llanos, González Gutiérrez-Solana, Luis||, Cuadras, Daniel||, Muchart, Jordi, Montero, Raquel||, Artuch, R.||, Pérez-Cerdá, Celia, Pérez, Belén||, Pérez-Dueñas, Belén||, Macaya Ruiz, Alfons||, Fernández-Fernández, José Manuel||, Serrano, Mercedes||   +19 more
openaire   +1 more source

Ophthalmological and electrophysiological findings in monozygotic twin sisters with phosphomannomutase 2 deficiency (PMM2-CDG) over a period of 37 years. [PDF]

GMS Ophthalmol Cases, 2019
Van Hees I, Jaeken J, Meersseman W, Casteels I.   +3 more
europepmc   +1 more source

Glycosylation defects in lipid metabolism [PDF]

, 2020
van den Boogert, M.A.W.
core  

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patients. [PDF]

Orphanet J Rare Dis
Zhao P, Tan L, Meng Q, Zhang L, Huang Y, Zhang X, Hu Y, Zhou S, He X.   +8 more
europepmc   +1 more source

Establishing an auxin-inducible GFP nanobody-based acute protein knockdown system to mimic hypomorphic mutations during early medaka embryogenesis. [PDF]

Biol Open
Pakari K, Jakab S, Rasch J, Salvador ES, Wittbrodt B, Thiel C, Wittbrodt J, Thumberger T.   +7 more
europepmc   +1 more source