Results 61 to 70 of about 167,517,803 (126)

Protein posttranslational modifications in metabolic diseases: basic concepts and targeted therapies

MedComm, Volume 5, Issue 10, October 2024.
Posttranslational modifications of proteins are involved in the development of metabolism‐related diseases such as diabetes mellitus, obesity, hyperlipidemia, and nonalcoholic fatty liver disease. PTMs mediates the development of diabetes mellitus by affecting insulin homeostasis, glucose metabolism, diabetic complications, gluconeogenesis, and β‐cell ...
Yunuo Yang, Jiaxuan Wu, Wenjun Zhou, Guang Ji, Yanqi Dang   +4 more
wiley   +1 more source

Dysregulated proteome and N‐glycoproteome in ALG1‐deficient fibroblasts

PROTEOMICS, Volume 24, Issue 15, August 2024.
Abstract Asparagine‐linked glycosylation 1 protein is a β‐1,4‐mannosyltransferase, is encoded by the ALG1 gene, which catalyzes the first step of mannosylation in N‐glycosylation. Pathogenic variants in ALG1 cause a rare autosomal recessive disorder termed as ALG1‐CDG.
Rohit Budhraja, Neha Joshi, Silvia Radenkovic, Tamas Kozicz, Eva Morava, Akhilesh Pandey   +5 more
wiley   +1 more source

Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition

The FASEB Journal, Volume 38, Issue 13, 15 July 2024.
N‐glycosylation inhibitions by Tunicamycin (TUN) or by knockdown of phosphomannomutase 2 (PMM2) gene block the C2C12 myoblast fusion and impair the myogenic program. TUN treatment decreased myogenic markers and increased atrophy markers in muscles of WT and MLC/mIgf‐1 mice, which overexpress muscle Igf‐1Ea mRNA isoform.
Giosuè Annibalini, Laura Di Patria, Giacomo Valli, Matteo Bocconcelli, Roberta Saltarelli, Lorenzo Ferri, Laura Barberi, Fabiana Fanelli, Amelia Morrone, Rita Barone, Renzo Guerrini, Antonio Musarò, Vilberto Stocchi, Elena Barbieri   +13 more
wiley   +1 more source

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2

Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.
Congenital disorders of glycosylation with novel phenotypes and disruptive N‐glycan profiling caused by compound heterozygous MAN2B2 variants (NM_015274.1, c.384G>T; c.926T>A). Abstract Background Congenital disorders of glycosylation (CDG) are a type of inborn error of metabolism (IEM) resulting from defects in glycan synthesis or failed attachment of
Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang   +4 more
wiley   +1 more source

Identification of the native Torpedo californica nicotinic acetylcholine receptor's glycan composition after a multi‐step sequential purification method using MALDI‐ToF MS

PROTEOMICS, Volume 24, Issue 1-2, January 2024.
Abstract The Cys‐loop pentameric ligand‐gated ion channels comprise a dynamic group of proteins that have been extensively studied for decades, yielding a wealth of findings at both the structural and functional levels. The nicotinic acetylcholine receptor (nAChR) is no exception, as it is part of this large protein family involved in proper organismal
Rafael Maldonado‐Hernández, Orestes Quesada, José A. González‐Feliciano, Abel Baerga‐Ortiz, José A. Lasalde‐Dominicci   +4 more
wiley   +1 more source

Consanguinity and the risk of congenital heart disease [PDF]

, 2012
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Hudgins, L., Shieh, J.T.C., Bittles, A.H.   +2 more
core  

Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder

, 2015
Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Jui Lagoo, Archana Kalaichelvam
core  

Incidence of congenital hypothyroidism in the Autonomous Province of Bolzano: benefit of increased iodine intake

, 2015
PURPOSE: Although a nation-wide salt iodization program on voluntary basis was implemented in 2005, many areas in our country are still characterized by mild iodine deficiency.
Olivieri, A, Medda, E, SALERNO, MARIACAROLINA, Radetti, G, Italian Study Group for Congenital Hypothyroidism   +4 more
core   +1 more source

Passive immunization during pregnancy for congenital cytomegalovirus infection

, 2005
BACKGROUND: Currently, there is no effective intervention for a primary cytomegalovirus (CMV) infection during pregnancy. METHODS: We studied pregnant women with a primary CMV infection.
Giuseppe Gentile, Congenital Cytomegalovirus Collaborating Group, Al M. Best, Giovanni Nigro, Stuart P. Adler, Renato La Torre   +5 more
core   +1 more source

Editor’s Pick: Genetics and Pathophysiology of Co-occurrence of Congenital Heart Disease and Autism Spectrum Disorder

There is increasing evidence demonstrating that children with congenital heart disease (CHD) have a greater risk of developing autism spectrum disorder (ASD) in later life.
Leong Tung Ong
core   +1 more source