Results 51 to 60 of about 166,041,693 (206)

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source

Refining the genetics of muscular dystrophies with defective glycosylation of dystroglycan [PDF]

, 2010
The aberrant glycosylation of α-dystroglycan is associated with a subset of clinically heterogeneous muscular dystrophies collectively referred to as dystroglycanopathies.
Godfrey, C.
core  

Congenital disorders of glycosylation: new defects and still counting [PDF]

, 2014
Contains fulltext : 134021.pdf (Publisher’s version ) (Closed access)Almost 50 inborn errors of metabolism have been described due to congenital defects in N-linked glycosylation. These phenotypically diverse disorders typically present
Kozicz, L.T., Morava, E., Scott, K., Gadomski, T.   +3 more
core   +2 more sources

Protein glycosylation in the gram-negative gamma proteobacterium photorhabdus luminescens [PDF]

, 2011
The objective of this research was to investigate the possibility that Photorhabdus luminescens produces glycoproteins and thus contains a protein glycosylation system. P. luminescens is a pathogen of insects and a symbiont of soil nematodes.
Fox, Mary
core   +2 more sources

N- and O-glycan analysis for the detection of glycosylation disorders

Egyptian Journal of Medical Human Genetics, 2021
Background Congenital disorders of glycosylation (CDGs) are defined as a group of several rare autosomal recessive inborn errors of metabolism that affect the glycosylation of many proteins and/or lipids.
Amr Sobhi Gouda, Azza Fahmy Elbaz, Thierry Dupré, Ola Sayed Mohamed Ali, Maha Saad Zaki, Ekram Maher Fateen   +5 more
doaj   +1 more source

MAN1B1-CDG: Three new individuals and associated biochemical profiles

Molecular Genetics and Metabolism Reports, 2021
Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders.
Soraya Sakhi, Sophie Cholet, Samer Wehbi, Bertrand Isidor, Benjamin Cogne, Sandrine Vuillaumier-Barrot, Thierry Dupré, Trost Detleft, Emmanuelle Schmitt, Bruno Leheup, Céline Bonnet, François Feillet, Christine Muti, François Fenaille, Arnaud Bruneel   +14 more
doaj   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

JIMD Reports, 2023
The phosphatidylinositol glycan anchor biosynthesis class O protein (PIGO) enzyme is an important step in the biosynthesis of glycosylphosphatidylinositol (GPI), which is essential for the membrane anchoring of several proteins.
Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange   +7 more
doaj   +1 more source

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

Underdiagnosis of mild congenital disorders of glycosylation type Ia

, 2005
International audienceCongenital disorders of glycosylation-Ia are the most frequent type of congenital disorders of glycosylation. This condition affects the nervous system as well as other organs.
Giurgea, Irina, de Lonlay, Pascale, Le Merrer, Martine, Michel, Anne, Seta, Nathalie   +4 more
core   +1 more source