Results 71 to 80 of about 166,041,693 (206)

PMM2‐CDG and nephrotic syndrome: A case report

Clinical Case Reports, 2022
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by a defect in the protein glycosylation process. Enzymes involved in this metabolic mechanism have ubiquitous distribution; thus, their alteration can ...
Giuseppe Banderali, Elisabetta Salvatici, Valentina Rovelli, Jaak Jaeken   +3 more
doaj   +1 more source

Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett, Christian M. Parobek, Jessian L. Munoz, Lauren E. Westerfield, Kristi Poling, Cara Buskmiller, Amir A. Shamshirsaz, Roopali V. Donepudi, Ignatia B. Van den Veyver, Magdalena Sanz Cortes, Michael A. Belfort, Ahmed A. Nassr   +11 more
wiley   +1 more source

CRISPR/Cas9-mediated mutation of asparagine-linked glycosylation 13 transcript variant 1 causes epilepsy in mice

Journal of Bio-X Research, 2020
. Objective:. The asparagine-linked glycosylation 13 homolog (Alg13) has been identified as causative for congenital disorders of glycosylation type I with epilepsy.
Baoli Yu, Geng Zhu, Shangang Li, Xuejin Chen, Qian Fang, Yan Zhang, Yixun Liu, Shengtian Li, Ji Wu   +8 more
doaj   +1 more source

Neonatal Presentations of Congenital Disorders of Glycosylation

, 2017
Congenital disorders of glycosylation (CDG) are a variable, rapidly expanding group of genetic metabolic disorders. Glycosylation is fundamental to the processing of proteins and lipids, and as such, disorders in these pathways can cause multisystemic ...
Sanmati R. Cuddapah, Rebecca D. Ganetzky
core   +1 more source

Progress in bone tissue engineering biomaterials: Development, challenges, and prospects

VIEW, EarlyView.
Scheme 1 Application of biomaterials in immunomodulation during bone tissue engineering. Abstract Bone defect repair remains a major clinical challenge in orthopedics. Over 2 million cases caused by trauma, tumors, and other factors occur annually, with large‐scale defects posing a particular bottleneck due to limited self‐healing capacity.
Yuanbin Zhang, Junlei Chai, Quanwei Ding, Luping Liu, Kejie Zhang, Jie Lin, Jianhua Zhang, Youju Huang   +7 more
wiley   +1 more source

Table1_Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis.pdf

, 2022
N-glycosylation defects—isolated or mixed with other glycosylation defects—are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features.
Dorota Wesół-Kucharska (14249348), Aleksandra Jezela-Stanek (3862963), Dariusz Rokicki (3585620), Agata Rawiak (14249354), Magdalena Kaczor (14249351), Milena Greczan (14249345)   +5 more
core   +1 more source

GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT

Педиатрическая фармакология, 2008
The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of ...
Yu.S. Akoev, A.V. Migali, N.V. Zhurkova, O.B. Kondakova, E.A. Roslavtseva, A.R. Pinaeva, V.A. Skvortsova, I.I. Migali   +7 more
doaj   +2 more sources

Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function.

Frontiers in Neuroscience, 2015
The Conserved Oligomeric Golgi (COG) complex is an evolutionarily conserved hetero-octameric protein complex that has been proposed to organize vesicle tethering at the Golgi apparatus.
Leslie K Climer, Maxim eDobretsov, Vladimir eLupashin   +2 more
doaj   +1 more source

Porphyromonas gingivalis GroEL accelerates abdominal aortic aneurysm formation by matrix metalloproteinase‐2 SUMOylation in vascular smooth muscle cells: A novel finding for the activation of MMP‐2

Molecular Oral Microbiology, EarlyView.
Abstract Infection is a known cause of abdominal aortic aneurysm (AAA), and matrix metalloproteases‐2 (MMP‐2) secreted by vascular smooth muscle cells (SMCs) plays a key role in the structural disruption of the middle layer of the arteries during AAA progression.
Yi‐Wen Lin, Feng‐Yen Lin, Ze‐Hao Lai, Chien‐Sung Tsai, Yi‐Ting Tsai, Yen‐Sung Huang, Chen‐Wei Liu   +6 more
wiley   +1 more source

The Close Relationship between the Golgi Trafficking Machinery and Protein Glycosylation

Cells, 2020
Glycosylation is the most common post-translational modification of proteins; it mediates their correct folding and stability, as well as their transport through the secretory transport.
Anna Frappaolo, Angela Karimpour-Ghahnavieh, Stefano Sechi, Maria Grazia Giansanti   +3 more
doaj   +1 more source