Results 51 to 60 of about 14,532 (228)

Structural Basis of GABAB Receptor Activation during Evolution

Advanced Science, EarlyView.
This study explores the structural and functional mechanisms of the drosophila GABAB receptor, a key role in neurotransmission. Using cryo‐EM, the research reveals how the receptor's activation differs from its human counterpart, highlighting unique evolutionary features.
Guofei Hou, Shenglan Zhang, Cangsong Shen, Suyu Ji, Binqian Zou, Chanjuan Xu, Liang Li, Dandan Shen, Jiayin Liang, Haidi Chen, Philippe Rondard, Cheng Deng, Jun He, Yan Zhang, Jianfeng Liu   +14 more
wiley   +1 more source

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation [PDF]

, 2018
FUK encodes fucokinase, the only enzyme capable of converting L-fucose to fucose-1-phosphate, which will ultimately be used for synthesizing GDP-fucose, the donor substrate for all fucosyltransferases.
Bearden, David R., Burrage, Lindsay C., Craigen, William J., Emrick, Lisa, Freeze, Hudson H., Graham, Brett H., Jain, Mahim, Lee, Brendan, Ng, Bobby G., Rosenfeld, Jill A.   +9 more
core   +1 more source

Comorbidities in Mild WAS/XLT Require Lifelong Follow‐Up and Consideration of Definitive Treatment

American Journal of Hematology, EarlyView.
Our study followed the clinical and biological course of 261 WAS/XLT patients, including 170 with a mild form of the disease. The occurrence of late complications even in mild patients confirms the importance of offering lifelong follow‐up and considering definitive treatment (HSCT/gene therapy) for all patients.
Coralie Mallebranche, Charline Miot, Mickael Alligon, Despina Moshous, Benedicte Neven, Vincent Barlogis, Virginie Courteille, Bénédicte Bruno, Marie Ouachée‐Chardin, Dalila Adjaoud, Yves Delneste, Olivier Bouaziz, Capucine Picard, Alain Fischer, Nizar Mahlaoui, Isabelle Pellier, Members of the CEREDIH French PID Study Group   +16 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

X-Linked Infantile Spasms

Pediatric Neurology Briefs, 1997
Two unrelated families with X-linked infantile spasm syndrome were studied genetically by two-point and multipoint linkage analyses at the University Hospital Gasthuisberg, and Center for Human Genetics, University of Leuven, and University of Antwerp ...
J Gordon Millichap
doaj   +1 more source

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. [PDF]

PLoS ONE, 2018
Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical ...
Anne T Berg, Samya Chakravorty, Sookyong Koh, Zachary M Grinspan, Renée A Shellhaas, Russell P Saneto, Elaine C Wirrell, Jason Coryell, Catherine J Chu, John R Mytinger, William D Gaillard, Ignacio Valencia, Kelly G Knupp, Tobias Loddenkemper, Joseph E Sullivan, Annapurna Poduri, John J Millichap, Cynthia Keator, Courtney Wusthoff, Nicole Ryan, William B Dobyns, Madhuri Hegde   +21 more
doaj   +1 more source

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]

, 2010
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F, Crompton, Danielle, De Gressi, Susanna, Foster, Kathleen, Hardy, Carol, Hughes, Imelda, Kurian, Manju A, Lunt, Peter, MacPherson, Lesley, Maher, Eamonn R, McDonald, Fiona, Morgan, Neil V, Pike, Michael G, Rehal, Pauline K, Smith, Matthew   +14 more
core   +1 more source

Manganese Neurotoxicity and Familial Disorders of Manganese Transport

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Manganese is the 12th most common element in the Earth's crust and is an essential industrial component. Biologically, this metal plays an important role as a constituent of numerous enzymes. While manganese is required for normal biochemical and physiological processes, manganese excess can lead to significant toxicity, particularly to the ...
Sidney M. Gospe Jr.
wiley   +1 more source

Genetic heterogeneity in infantile spasms [PDF]

Epilepsy Research, 2019
Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS.
Muir A. M., Myers C. T., Nguyen N. T., Saykally J., Craiu D., De Jonghe P., Helbig I., Hoffman-Zacharska D., Guerrini R., Lehesjoki A. -E., Marini C., Moller R. S., Serratosa J., Sterbova K., Striano P., von Spiczak S., Weckhuysen S., Mefford H. C.   +17 more
openaire   +5 more sources

Increased Extra‐Axial Cerebrospinal Fluid Volume in Children With Angelman Syndrome: Links to Sleep Problems and Seizures

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Previous studies demonstrated that children with autism have enlarged volumes of extra‐axial cerebrospinal fluid (EA‐CSF) and an increased ratio of EA‐CSF to brain volume, indicating that EA‐CSF is disproportionally increased beyond macrocephaly often observed in autism.
Zumin Chen, Dea Garic, Yinuo Xu, Rachel G. Smith, Leigh Anne H. Weisenfeld, Sun Hyung Kim, Martin A. Styner, Joseph Piven, Benjamin D. Philpot, Heather C. Hazlett, Mark D. Shen   +10 more
wiley   +1 more source