Results 91 to 100 of about 2,410 (179)

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

GMPPB‐CDG Results in Lysosomal Dysfunction and Acid Alpha‐Glucosidase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GDP‐mannose pyrophosphorylase B (GMPPB) deficiency is a congenital disorder of glycosylation due to pathogenic variants of the GMPPB gene. GMPPB catalyzes GDP‐mannose synthesis, an early step in multiple glycosylation pathways, including N‐glycosylation, O‐mannosylation, C‐mannosylation, and glycosylphosphatidylinositol‐anchor formation.
Carla Damiano, Antonietta Tarallo, Vincenza Gragnaniello, Sandra Strollo, Simona Fecarotta, M. Rosaria Tuzzi, Elena Polishchuk, Sandro Montefusco, Anna Valanzano, Antonia Assunto, Nadia Minopoli, Roberto Della Casa, Roman Polishchuk, Stijn L. M. in 't Groen, Diego Luis Medina, Enrico Bertini, Rosalba Carrozzo, Julia Emmerich, Benedikt Schoser, W. W. M. Pim Pijnappel, Giancarlo Parenti   +20 more
wiley   +1 more source

Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

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, Michelle Dookwah, Mary Lynn Dear, Cheryl L. Gatto, Kazuhiro Aoki, Michael Tiemeyer, Kendal Broadie   +6 more
doaj   +1 more source

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients [PDF]

, 2013
Mutations in PMM2 impair phosphomannomutase-2 activity and cause the most frequent congenital disorder of glycosylation, PMM2-CDG. Mannose-1-phosphate, that is deficient in this disorder, is also implicated in the biosynthesis of glycosylphosphatidyl ...
Lozano, María Luisa, Trinidad Hernández-Caselles, Maria E de la Morena-Barrio, Jaeken, Jaak, Irene Martínez-Martínez, Kristensen, Soren R; id_orcid, Carmen Altisent, Sevivas, Teresa, Hernández-Caselles, Trinidad, Teresa Sevivas, Martínez-Martínez, Irene, Kristensen, Soren, Soren R Kristensen, Altisent, Carmen, Maria L Lozano, Pérez-Dueñas, Belen, Belen Pérez-Dueñas, Encarna Guillén-Navarro, Morena-Barrio, María Eugenia de la, Guillén-Navarro, Encarna, Jaak Jaeken, Javier Corral, de la Morena-Barrio, Maria E, Lozano, Maria L, Corral, Javier, Antonia Miñano, Roberto García-López, García-López, Roberto, Miñano, Antonia, Vicente, Vicente, Vicente Vicente   +30 more
core   +1 more source

Clinical, demographic and genetic characteristics of PMM2-CDG patients.

, 2016
Clinical, demographic and genetic characteristics of PMM2-CDG patients.
Belén Pérez-Dueñas (2802784), Roberto García-López (3123309), Jaak Jaeken (496679), Trinidad Hernández-Caselles (630343), Laia Alsina (698454), Mercedes Serrano (499099), María Eugenia de la Morena-Barrio (414038), Mercedes Casado (3153636)   +7 more
core   +1 more source

PMM2 controls ERα levels and cell proliferation in ESR1 Y537S variant expressing breast cancer cells [PDF]

Purpose: Metabolic reprogramming in breast cancer (BC) subtypes offers potential personalized treatment targets. Estrogen receptor α (ERα)-positive BC patients undergoing endocrine therapy (ET) can develop ET-resistant metastatic disease.
Cipolletti, Manuela, Acconcia, Filippo
core   +1 more source

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Orphanet Journal of Rare Diseases, 2017
Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS).
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium   +11 more
doaj   +1 more source

rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia ( Deficiency)

Journal of Investigative Medicine High Impact Case Reports, 2013
Background . Congenital disorders of glycosylation (CDG) are a group of rare disorders in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and
Bradley S. Miller MD, PhD, Meghann M. Duffy MD, O. Yaw Addo PhD, Kyriakie Sarafoglou MD   +3 more
doaj   +1 more source

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

, 2015
PMM2-CDG (PMM2 gene mutations) is the most common congenital disorder of N-glycosylation. We conducted a nationwide survey to characterize the frequency, clinical features, glycosylation and genetic correlates in Italian patients with PMM2-CDG.
Battini R, Burlin A, Sturiale L, Leuzzi V, Barone R, Spada M, Di Rocco M, Carrozzi M, Parini R, Elia M, Ciana G, Garozo D: Fiumara A, Jaeken J, Matthijs G, Martinelli D, Lilliu F, Leoni M   +16 more
core   +2 more sources

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Molecular Genetics and Metabolism Reports
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia.
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma   +10 more
doaj   +1 more source