Results 81 to 90 of about 794 (130)

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report

Orphanet Journal of Rare Diseases, 2010
Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly.
Zagal Ahmad, Kaya Namik, Mohamed Sarar, Al-Owain Mohammed, Matthijs Gert, Jaeken Jaak   +5 more
doaj   +1 more source

Insights Into the Pathological Glycosylation Associated With COG6‐CDG

Human Mutation, Volume 2025, Issue 1, 2025.
Background and Aims Congenital disorders of glycosylation (CDG) are rare diseases caused by defects in protein glycosylation. We present an infant with multisystemic clinical involvement, diagnosed with COG6‐CDG. Methods Serum and transferrin‐linked N‐glycans, as well as serum and apolipoprotein CIII–linked O‐glycans, were analyzed by MALDI mass ...
Zuzana Pakanová, Maroš Krchňák, Marek Nemčovič, Rebeka Kodríková, Nina Ondrušková, Hana Štufková, Mária Giertlová, Katarína Okáľová, Paula Stretavská, Slavomíra Martineková, Renáta Zemjarová Mezenská, Michaela Urminská, Martina Škopková, Andrea Andrésová, Miroslava Lysinová, Lenka Belujská, Anna Šalingová, Gábor Beke, Lucia Račková, Tomáš Honzík, Hana Hansíková, Peter Baráth, Priya Gusain   +22 more
wiley   +1 more source

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes

Frontiers in Endocrinology
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini, Elena Barbieri, Elena Barbieri, Rita Barone, Rita Barone, Renzo Guerrini, Renzo Guerrini, Amelia Morrone, Amelia Morrone, Stefano Stagi, Stefano Stagi   +13 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

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

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
PMM2-CDG (MIM # 212065), the most common congenital disorder of glycosylation, is caused by the deficiency of phosphomannomutase 2 (PMM2). It is a multisystemic disease of variable severity that particularly affects the nervous system; however, its molecular pathophysiology remains poorly understood. Currently, there is no effective treatment.
Gallego, Diana, Serrano, Mercedes, Cordoba-Caballero, Jose, Gámez, Alejandra, Seoane, Pedro, Perkins, James R., Ranea, Juan A.G., Pérez, Belén   +7 more
openaire   +5 more sources

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

Frontiers in Immunology
Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response.
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Rita Francisco, Rita Francisco, Rita Francisco, Patrícia Mexia, Patrícia Mexia, Patrícia Mexia, Beatriz Luís Pereira, Beatriz Luís Pereira, Beatriz Luís Pereira, Pedro Granjo, Pedro Granjo, Pedro Granjo, Helena Coelho, Helena Coelho, Mariana Barbosa, Mariana Barbosa, Mariana Barbosa, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula Alexandra Videira, Paula Alexandra Videira, Paula Alexandra Videira   +25 more
doaj   +1 more source

In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1

Molecules
Phosphomannomutase 2 (PMM2) catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate, a key step in the biosynthesis of GDP-mannose for N-glycosylation. Its deficiency is the most common cause of congenital disorders of glycosylation (
Bruno Hay Mele, Jessica Bovenzi, Giuseppina Andreotti, Maria Vittoria Cubellis, Maria Monticelli   +4 more
doaj   +1 more source

PMM2-CDG [PDF]

, 2020
openaire   +1 more source

Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG

Molecular Genetics and Metabolism
The most common congenital disorders of glycosylation (CDG) is the phosphomannomutase 2 (PMM2) deficiency (PMM2-CDG). PMM2-CDG is a complex genetic disorder that often found in infancy or early childhood with a clinically heterogeneous variety of neurological and non- neurological symptoms.
Huiting, Zhang, Jingtao, Zhang, Weimeng, Ma, Xue, Ma, Ruxuan, He, Yuan, Ding, Yupeng, Liu, Wenyue, Zhang, Hui, Dong, Yao, Zhang, Miao, He, Yanling, Yang   +11 more
openaire   +2 more sources