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https://www.readbyqxmd.com/read/28484880/what-is-new-in-cdg
#1
Jaak Jaeken, Romain Péanne
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causing secondary hypoglycosylation. This review covers the human CDG highlights from the last 3 years (2014-2016) following a summary of the actual status of CDG. It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, VPS13B, CCDC115, TMEM199, ATP6AP1, ATP6V1A, ATP6V1E1, TRAPPC11, XYLT1 and XYLT2...
May 8, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28296633/the-vacuolar-atpase-complex-and-assembly-factors-tmem199-and-ccdc115-control-hif1%C3%AE-prolyl-hydroxylation-by-regulating-cellular-iron-levels
#2
Anna L Miles, Stephen P Burr, Guinevere L Grice, James A Nathan
Hypoxia Inducible transcription Factors (HIFs) are principally regulated by the 2-oxoglutarate and Iron(II) prolyl hydroxylase (PHD) enzymes, which hydroxylate the HIFα subunit, facilitating its proteasome-mediated degradation. Observations that HIFα hydroxylation can be impaired even when oxygen is sufficient emphasise the importance of understanding the complex nature of PHD regulation. Here, we use an unbiased genome-wide genetic screen in near-haploid human cells to uncover cellular processes that regulate HIF1α...
March 15, 2017: ELife
https://www.readbyqxmd.com/read/28108845/liver-involvement-in-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#3
REVIEW
D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, P A Videira, P Witters, J Jaeken, D Cassiman
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening...
March 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/26833330/tmem199-deficiency-is-a-disorder-of-golgi-homeostasis-characterized-by-elevated-aminotransferases-alkaline-phosphatase-and-cholesterol-and-abnormal-glycosylation
#4
Jos C Jansen, Sharita Timal, Monique van Scherpenzeel, Helen Michelakakis, Dorothée Vicogne, Angel Ashikov, Marina Moraitou, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Marjolein A W van den Boogert, Francesco Porta, Pier Luigi Calvo, Mersyni Mavrikou, Giovanna Cenacchi, Geert van den Bogaart, Jody Salomon, Adriaan G Holleboom, Richard J Rodenburg, Joost P H Drenth, Martijn A Huynen, Ron A Wevers, Eva Morava, François Foulquier, Joris A Veltman, Dirk J Lefeber
Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously complicated by the large number of proteins involved. As part of a strategy to identify human homologs of yeast proteins that are known to be involved in Golgi homeostasis, we identified uncharacterized transmembrane protein 199 (TMEM199, previously called C17orf32) as a human homolog of yeast V-ATPase assembly factor Vph2p (also known as Vma12p)...
February 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/20158880/complex-sense-antisense-architecture-of-tnfaip1-poldip2-on-17q11-2-represents-a-novel-transcriptional-structural-functional-gene-module-involved-in-breast-cancer-progression
#5
Oleg V Grinchuk, Efthimios Motakis, Vladimir A Kuznetsov
BACKGROUND: A sense-antisense gene pair (SAGP) is a gene pair where two oppositely transcribed genes share a common nucleotide sequence region. In eukaryotic genomes, SAGPs can be organized in complex sense-antisense architectures (CSAGAs) in which at least one sense gene shares loci with two or more antisense partners. As shown in several case studies, SAGPs may be involved in cancers, neurological diseases and complex syndromes. However, CSAGAs have not yet been characterized in the context of human disease or cancer...
2010: BMC Genomics
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