Results 61 to 70 of about 784 (133)

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

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

Orphanet Journal of Rare Diseases, 2013
AbstractBackgroundMutations inPMM2impair 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 inositol (GPI) anchors.ObjectiveTo evaluate whether GPI-anchor and GPI-anchored ...
de la Morena-Barrio, Maria E, Hernández-Caselles, Trinidad, Corral, Javier, García-López, Roberto, Martínez-Martínez, Irene, Pérez-Dueñas, Belen, Altisent, Carmen, Sevivas, Teresa, Kristensen, Soren R, Guillén-Navarro, Encarna, Miñano, Antonia, Vicente, Vicente, Jaeken, Jaak, Lozano, Maria L   +13 more
openaire   +5 more sources

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

Congenital disorder of glycosylation – one size does not fit all: a parent’s perspective

Therapeutic Advances in Rare Disease, 2022
This article is written by the parent of a child living with PMM2 -congenital disorder of glycosylation (abbreviated to PMM2 -CDG). It provides a parental perspective of the journey taken from diagnosis to present day and details the effect of off-label ...
Konstantin Feinberg
doaj   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

D‐Mannose Alleviates Type 2 Diabetes and Rescues Multi‐Organ Deteriorations by Controlling Release of Pathological Extracellular Vesicles

Exploration, Volume 5, Issue 5, October 2025.
In this study, Zhang and colleagues show that drinking‐water supplementation of D‐mannose serves as an effective and potential therapeutic of type 2 diabetes, with improvement of both liver health and bone mass. The effect is exerted through suppressing macrophage release of extracellular vesicles based on metabolic control of CD36 expression.
Sha Zhang, Kai Zhang, Chen‐Xi Zheng, Ying‐Feng Gao, Guo‐Rong Deng, Xu Zhang, Yuan Yuan, Ting Jia, Si‐Yuan Tang, Guang‐Xiang He, Zhen Gong, Na Zhao, Bo Ma, Hua Tian, Hong Zhang, Zhe Li, Yong‐Chang Di‐Wu, Yi‐Han Liu, Liang Kong, Jing Ma, Yan Jin, Bing‐Dong Sui   +21 more
wiley   +1 more source

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of diseases caused by defects in various steps of the glycosylation pathway. There are over 200 known human glycosylation‐related disorders. Many of these defects lead to multisystemic manifestations, commonly involving the central nervous system, with symptoms ranging from ...
Nobuhiko Okamoto, Machiko Kadoya, Yoshinao Wada   +2 more
wiley   +1 more source

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

JA Clinical Reports, 2017
Background Glycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions.
Wataru Sakai, Yusuke Yoshikawa, Yasuyuki Tokinaga, Michiaki Yamakage   +3 more
doaj   +1 more source