Results 21 to 30 of about 1,033 (156)

Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

Annals of Clinical and Translational Neurology, 2019
We report sleep phenotypes and polysomnographic findings in two siblings with a novel homozygous variant of the GLRA1 gene causing hereditary hyperekplexia (HH).
Régis Lopez, François Rivier, Jamel Chelly, Yves Dauvilliers   +3 more
doaj   +2 more sources

Magnetic resonance spectroscopy of cerebral cortex is normal in hereditary hyperekplexia due to mutations in the GLRA1 gene

Movement Disorders, 2003
AbstractExcessive startling and stiffness in hereditary hyperekplexia has been attributed to lack of inhibition at either the cortical or brainstem level. Six patients with hereditary hyperekplexia (HH) and a confirmed mutation in the gene encoding the α1 subunit of the glycine receptor (GLRA1) underwent single voxel 1H magnetic resonance spectroscopy (
Tijssen, M, Brown, P, MacManus, D, McLean, M, Davie, C   +4 more
openaire   +4 more sources

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis. [PDF]

Journal of Medical Genetics, 1996
Hyperekplexia is a rare condition characterised by the presence of neonatal hypertonia and an exaggerated startle response. Mutations have been described in GLRA1, the gene encoding the alpha 1 subunit of the glycine receptor, in dominant families with hyperekplexia and in a single sporadic case, thought to represent an autosomal recessive form of the ...
A Curtis
exaly   +3 more sources

Localization of the Glycine Receptor α1 Subunit Gene (GLRA1) to Chromosome 5q32 by FISH

Genomics, 1994
The human Gly R {alpha}{sub 1} subunit cDNA was labeled by nick-translatoin using biotin-14-dATP and hybridized in situ at a final concentration of 20 ng/{mu}l to metaphase chromosome spreads from two normal males. The FISH method was modifed from that previously described in that chromosomes were stained with both propidium iodide (as a counterstain ...
Grant R Sutherland, Peter R Schofield
exaly   +3 more sources

Glycine-GLRA1-calmodulin signaling regulates ER calcium to sustain insulin secretion and β-cell function

Abstract Glycine, a non-essential amino acid, has been linked to improved metabolic health and enhanced insulin secretion, yet its mechanistic role in β-cell function remains poorly defined. Here, we identify a glycine–GLRA1–calmodulin signaling axis that regulates endoplasmic reticulum (ER) calcium homeostasis to support insulin biosynthesis and β ...
Zhang, Jiarui, Cao, Zehui, Yang, Jinbao, Zhu, Kuo, Liu, Shuai, Liu, Weijie, Lu, Jin, Zhao, Hongfang, Dai, Wei, Chang, Chunmei, Ye, Haobin, Du, Xingrong, Wang, Qi, Jiang, Binghua, Wang, Sijia, Jin, Li, Zhao, Tongjin, Li, Peng, Vidal-Puig, Antonio, Zheng, Yuanting, Shi, Leming, Huang, Linzhang   +21 more
openaire   +3 more sources

Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia

Journal of Clinical Neurology, 2020
Hyperekplexia (HPX), a rare neurogenetic disorder, is classically characterized by neonatal hypertonia, exaggerated startle response provoked by the sudden external stimuli and followed by a shortly general stiffness. Glycine receptor alpha 1 (GLRA1) is the major pathogenic gene of the disease.
Feixia Zhan, Chao Zhang, Shige Wang, Zeyu Zhu, Guang Chen, Mingliang Zhao, Li Cao   +6 more
openaire   +2 more sources

The Concise Guide to PHARMACOLOGY 2023/24: Ion channels

British Journal of Pharmacology, Volume 180, Issue S2, Page S145-S222, October 2023., 2023
The Concise Guide to PHARMACOLOGY 2023/24 is the sixth in this series of biennial publications. The Concise Guide provides concise overviews, mostly in tabular format, of the key properties of approximately 1800 drug targets, and over 6000 interactions with about 3900 ligands. There is an emphasis on selective pharmacology (where available), plus links
Stephen P. H. Alexander, Alistair A. Mathie, John A. Peters, Emma L. Veale, Jörg Striessnig, Eamonn Kelly, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Alex C. Conner, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, Chandy George, Steve A. N. Goldstein, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Perez‐Reyes, Leigh D. Plant, Lachlan Rash, Dejian Ren, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Joris Vriens, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Wei Fang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +72 more
wiley   +1 more source

Role of Epigenetics and Metabolomics in Predicting Endothelial Dysfunction in Type 2 Diabetes

Advanced Biology, Volume 7, Issue 9, September 2023., 2023
Multiomics approaches have provided unprecedented opportunities to stratify type 2 diabetes patients into endotypes, improve therapeutic treatment and outcome and amend the survival prediction. Among omics strategies, epigenetics and metabolomics are gaining increasing interest.
Nadia Di Pietrantonio, Ilaria Cappellacci, Domitilla Mandatori, Maria Pompea Antonia Baldassarre, Assunta Pandolfi, Caterina Pipino   +5 more
wiley   +1 more source

Bioengineered Pancreas–Liver Crosstalk in a Microfluidic Coculture Chip Identifies Human Metabolic Response Signatures in Prediabetic Hyperglycemia

Advanced Science, Volume 9, Issue 34, December 8, 2022., 2022
Hyperglycemia caused by dysfunctional interactions between pancreas and liver is the largest risk factor for type 2 diabetes. By coculture of primary human liver spheroids and intact primary human pancreatic islets in a microfluidic device with heterologous perfusion, the authors recapitulate functional human tissue crosstalk ex vivo and reveal the ...
Reza Zandi Shafagh, Sonia Youhanna, Jibbe Keulen, Joanne X. Shen, Nayere Taebnia, Lena C. Preiss, Kathrin Klein, Florian A. Büttner, Mikael Bergqvist, Wouter van der Wijngaart, Volker M. Lauschke   +10 more
wiley   +1 more source

Deficiency of Intellectual Disability-Related Gene Brpf1 Attenuated Hippocampal Excitatory Synaptic Transmission and Impaired Spatial Learning and Memory Ability

Frontiers in Cell and Developmental Biology, 2021
Patients with monoallelic bromodomain and PHD finger-containing protein 1 (BRPF1) mutations showed intellectual disability. The hippocampus has essential roles in learning and memory.
Weiwei Xian, Jingli Cao, Xiangshan Yuan, Guoxiang Wang, Qiuyan Jin, Hang Zhang, Guomin Zhou, Guomin Zhou, Linya You, Linya You   +9 more
doaj   +1 more source