Results 41 to 50 of about 166,041,693 (206)

The essential endoplasmic reticulum chaperone Rot1 is required for protein N- and O-glycosylation in yeast [PDF]

, 2012
Rot1 is an essential yeast protein originally shown to be implicated in such diverse processes such as β-1,6-glucan synthesis, actin cytoskeleton dynamics, or lysis of autophagic bodies.
Lehle, L., Palamarczyk, G., Palamarczyk, Grazyna, Pasikowska, M., Pasikowska, Monika, Grazyna Palamarczyk, Monika Pasikowska, Ludwig Lehle, Lehle, Ludwig   +8 more
core   +2 more sources

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD Reports, 2019
Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological ...
Walinka vanTol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A. Willemsen, Christian Thiel, Dirk J. Lefeber   +6 more
doaj   +1 more source

The Swedish COG6‐CDG experience and a comprehensive literature review

JIMD Reports, 2023
Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6‐congenital disorders of glycosylation (COG6‐CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD ...
Zhi‐Jie Xia, Bobby G. Ng, Elizabeth Jennions, Maria Blomqvist, Anneli Sandqvist Wiklund, Carola Hedberg‐Oldfors, Carlos Rodriguez Gonzalez, Hudson H. Freeze, Sofia Ygberg, Erik A. Eklund   +9 more
doaj   +1 more source

Our Experience with Diagnostics of Congenital Disorders of Glycosylation

Acta Medica, 2004
The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and α1-antitrypsin, apart from ...
Ziad Albahri, Eliška Marklová, Hubert Vaníček, Lenka Minxová, Petr Dědek, Sylva Skálová, Marika Talábová, Jaroslava Vávrová, Eva Rencová   +8 more
doaj   +1 more source

Targeting GALNT7 Disrupts the TAZ O‐GalNAcylation Feedback Loop to Suppress Gallbladder Cancer Progression

Advanced Science, EarlyView.
Aberrant GALNT7‐mediated O‐GalNAcylation stabilizes TAZ to drive gallbladder cancer progression through a feed‐forward transcriptional loop. Structure‐based screening identifies Olaparib as a potent GALNT7 antagonist that disrupts this oncogenic axis, providing an immediate therapeutic strategy for this aggressive malignancy.
Peng Qiu, Ming Zhang, Yunxiang Feng, Yibo Deng, Kai Zhao, Xiangyu Li, Yun Lu, Li Tian, Tao Yang, Wei Yao, Jianming Wang, Zhengdong Deng   +11 more
wiley   +1 more source

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up

Orphanet Journal of Rare Diseases, 2021
Background Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids.
Anna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, Aleksandra Jezela-Stanek, Dariusz Rokicki, Piotr Socha, Anna Tylki-Szymańska   +6 more
doaj   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study [PDF]

, 2018
Congenital disorders of glycosylation (CDG) are ultra-rare diseases showing a great phenotypic diversity ranging from mono- to multi-organ/multisystem involvement. Liver involvement, mostly nonprogressive, is often reported in CDG patients.
Marques-da-Silva, Dorinda, Videira, Paula A, R. Francisco, Forbat, L., dos Reis Ferreira, Vanessa, Jaeken, J., Francisco, Rita, Forbat, Liz, D. Cassiman, Jaeken, Jaak, Lagoa, R., Francisco, R., Lagoa, Ricardo, L. Forbat, P. Witters, Witters, Peter, Cassiman, D., Videira, P.A., D. Marques-da-Silva, Cassiman, David, Videira, Paula A., Witters, P., Marques-da-Silva, D., J. Jaeken, P. A. Videira, R. Lagoa, Dos Reis Ferreira, V., V. dos Reis Ferreira   +27 more
core   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

, 2018
Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects.
Marques-da-Silva, Dorinda, dos Reis Ferreira, V, Jaeken, J., Gole, Glen A., Francisco, Rita, Rita Francisco, Jaeken, Jaak, Coman, D, Francisco, R, Pascoal, C, Francisco, R., Morava, E., Gole, G. A., Coman, D., Dorinda Marques‐da‐Silva, Morava, E, Carlota Pascoal, Glen A. Gole, Pascoal, C., Marques-da-Silva, D, Coman, David, Eva Morava, David Coman, Jaak Jaeken, Pascoal, Carlota, Morava, Eva, Marques-da-Silva, D., Dos Reis Ferreira, Vanessa, Vanessa dos Reis Ferreira, Jaeken, J, Gole, GA   +30 more
core   +1 more source