Results 11 to 20 of about 981 (122)

Mutations in PROSC and vitamin B6 dependent epilepsy – a functional study in zebrafish [PDF]

, 2018
Background: Vitamin B6 dependent epilepsies are a group of rare, recessive genetic diseases that causes seizures refractory to standard epilepsy treatment but that respond rapidly to vitamin B6. Several disease-causing mutations have already been described in detail, but the mechanism behind one of them, PROSC (proline synthetase co-transcribed homolog)
Selin, Rasmus
core   +3 more sources

The ubiquitous pyridoxal 5'-phosphate-binding protein is also an RNA-binding protein. [PDF]

Protein Sci
Abstract The pyridoxal 5′‐phosphate binding protein (PLP‐BP) is believed to play a crucial role in PLP homeostasis, which may explain why it is found in living organisms from all kingdoms. Escherichia coli YggS is the most studied homolog, but human PLP‐BP has also attracted much attention because variants of this protein are responsible for a severe ...
Graziani C, Barile A, Parroni A, di Salvo ML, De Cecio I, Colombo T, Babor J, de Crécy-Lagard V, Contestabile R, Tramonti A.   +9 more
europepmc   +2 more sources

MSC Membrane-Coated circPROSC-siRNA Nanoparticles for Ameliorating Craniosynostosis by Inhibiting Premature Suture Ossification. [PDF]

Adv Sci (Weinh)
CircPROSC promotes craniosynostosis by sponging miR‐6815‐5p, thereby activating WNT3A/β‐catenin signaling and enhancing RUNX2‐mediated osteogenesis. Targeted silencing of circPROSC with MSC membrane–coated siRNA nanoparticles (MM@Lipo/si‐circPROSC) delivered postnatally into cranial sutures attenuates premature suture closure in Twist1+/– mice ...
Weng Z, Chen X, Xu J, Yan Q, Jiao J, Liu Q, Gu A.   +6 more
europepmc   +2 more sources

Pyridoxal phosphate binding protein (PLPBP) deficiency mimicking opsoclonus-myoclonus-ataxia syndrome. [PDF]

Ann Child Neurol Soc
Abstract Introduction Genetic and metabolic conditions can mimic diagnoses such as hypoxic‐ischemic encephalopathy, meningoencephalitis, epilepsy, and opsoclonus‐myoclonus‐ataxia syndrome (OMAS). Without a high index of suspicion and proper testing, diagnoses can be missed, and treatment delayed.
Takle M, Sahjwani D, Bharucha-Goebel D, Rapp T, Bouska C, Kornbluh A, Sen K.   +6 more
europepmc   +2 more sources

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Epilepsia Open, Volume 8, Issue 4, Page 1383-1404, December 2023., 2023
Abstract Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome (IESS) in children is scarce in developing countries. This multicentre collaboration evaluated the genotypic and phenotypic landscape of genetic IESS in Indian children.
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu   +23 more
wiley   +1 more source

Treatment of seizures in the neonate: Guidelines and consensus‐based recommendations—Special report from the ILAE Task Force on Neonatal Seizures

Epilepsia, Volume 64, Issue 10, Page 2550-2570, October 2023., 2023
Abstract Seizures are common in neonates, but there is substantial management variability. The Neonatal Task Force of the International League Against Epilepsy (ILAE) developed evidence‐based recommendations about antiseizure medication (ASM) management in neonates in accordance with ILAE standards.
Ronit M. Pressler, Nicholas S. Abend, Stéphan Auvin, Geraldine Boylan, Francesco Brigo, Maria Roberta Cilio, Linda S. De Vries, Maurizio Elia, Alberto Espeche, Cecil D. Hahn, Terrie Inder, Nathalie Jette, Angelina Kakooza‐Mwesige, Silke Mader, Eli M. Mizrahi, Solomon L. Moshé, Lakshmi Nagarajan, Iris Noyman, Magda L. Nunes, Pauline Samia, Eilon Shany, Renée A. Shellhaas, Ann Subota, Chahnez Charfi Triki, Tammy Tsuchida, Kollencheri Puthenveettil Vinayan, Jo M. Wilmshurst, Elissa G. Yozawitz, Hans Hartmann   +28 more
wiley   +1 more source

On pathways and blind alleys—The importance of biomarkers in vitamin B6‐dependent epilepsies

Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 839-847, September 2023., 2023
Abstract Over the past two decades, the field of vitamin B6‐dependent epilepsies has evolved by the recognition of a growing number of gene defects (ALDH7A1, PNPO, ALPL, ALDH4A1, PLPBP as well as defects of the glycosylphosphatidylinositol anchor proteins) that all lead to reduced availability of pyridoxal 5′‐phosphate, an important cofactor in ...
Barbara Plecko
wiley   +1 more source

METTL13 facilitates cell growth and metastasis in gastric cancer via an eEF1A/HN1L positive feedback circuit

Journal of Cell Communication and Signaling, Volume 17, Issue 1, Page 121-135, March 2023., 2023
Abstract Although improved treatment could inhibit progression of gastric cancer (GC), the recurrence and metastasis remain challenging issues. Methyltransferase like 13 (METTL13) has been implicated in most human cancers, but its function and mechanism in GC remain elusive.
Qiong Wu, Qingqing Hu, Yanan Hai, Yandong Li, Yong Gao   +4 more
wiley   +1 more source

Characterization of the Escherichia coli pyridoxal 5′‐phosphate homeostasis protein (YggS): Role of lysine residues in PLP binding and protein stability

Protein Science, Volume 31, Issue 11, November 2022., 2022
Abstract The pyridoxal 5′‐phosphate (PLP) homeostasis protein (PLPHP) is a ubiquitous member of the COG0325 family with apparently no catalytic activity. Although the actual cellular role of this protein is unknown, it has been observed that mutations of the PLPHP encoding gene affect the activity of PLP‐dependent enzymes, B6 vitamers and amino acid ...
Angela Tramonti, Mohini S. Ghatge, Jill T. Babor, Faik N. Musayev, Martino Luigi di Salvo, Anna Barile, Gianni Colotti, Alessandra Giorgi, Steven D. Paredes, Akua K. Donkor, Mohammed H. Al Mughram, Valérie de Crécy‐Lagard, Martin K. Safo, Roberto Contestabile   +13 more
wiley   +1 more source

Current practice in diagnostic genetic testing of the epilepsies

Epileptic Disorders, Volume 24, Issue 5, Page 765-786, October 2022., 2022
Abstract Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes, novel mechanisms associated with epilepsy, and precision medicine approaches are continuously being identified. In the past decade, advances in genomic knowledge and analysis platforms have begun to make clinical genetic testing accessible for, in ...
Ilona Krey, Konrad Platzer, Alina Esterhuizen, Samuel F. Berkovic, Ingo Helbig, Michael S. Hildebrand, Holger Lerche, Daniel Lowenstein, Rikke S. Møller, Annapurna Poduri, Lynette Sadleir, Sanjay M. Sisodiya, Sarah Weckhuysen, Jo M. Wilmshurst, Yvonne Weber, Johannes R. Lemke   +15 more
wiley   +1 more source