Results 91 to 100 of about 784 (133)

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

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

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

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation. [PDF]

Sci Adv
Wang R, Wang F, DeBruyne N, Ji X, Engelhardt NM, Park JJ, Notaro A, Gaerlan S, Park R, Schultz MJ, Clever S, McCormick EM, Keith K, Ng BG, Kadash-Edmondson KE, Freeze HH, Lam CT, Morava E, Helbig I, Falk MJ, Ganetzky RD, Edmondson AC, Lin L, Xing Y.   +23 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

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

JCEM Case Rep
Ødum SF, Grønborg SW, Main KM, Klose M.   +3 more
europepmc   +1 more source