Results 51 to 60 of about 71,429 (285)

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Prevalência dos defeitos de fechamento do tubo neural em recém-nascidos do Centro de Atenção à Mulher do Instituto Materno Infantil Prof. Fernando Figueira, IMIP: 2000-2004 Neural tube defects prevalence in newborn infants in the Women Care Center of the Instituto Materno Infantil Prof. Fernando Figueira, IMIP: 2000-2004

Revista Brasileira de Saúde Materno Infantil, 2006
OBJETIVOS: conhecer a prevalência de defeito de fechamento do tubo neural (DFTN) em crianças nascidas na maternidade do Centro de Atenção à Mulher do Instituto Materno Infantil Prof. Fernando Figueira (IMIP) no período de 2000 a 2004.
Sâmya Silva Pacheco, Ariani Impieri de Souza, Suely de Arruda Vidal, Gláucia Virgínia de Queiroz Lins Guerra, Malaquias Batista Filho, Eduardo Victor de Paula Baptista, Maria Inês Bezerra de Melo   +6 more
doaj   +1 more source

Epidemiologic aspects of neural tube defects in South East Iran [PDF]

, 2006
Objectives: To investigate the rate of neural tube defects (NTDs) and their relation to gender, maternal age, consanguineous marriage, season, and drug consumption in Birjand, Iran.
Afshar, M., Farhud, D., Golalipour, M.J.
core  

Demonstration of astrocytes in cultured amniotic fluid cells of three cases with neural-tube defect [PDF]

, 1981
We have investigated the origin of rapidly adhering (RA) cells in three cases of neural tube defects (two anencephali, one encephalocele). We were able to demonstrate the presence of glial fibrillary acidic (GFA) protein in variable percentages (4–80 ...
AD Smith, AK Buamah, B Nørgaard-Pedersen, CB Laurell, CM Gosden, CM Gosden, CM Gosden, D Bignami, E Crouch, GR Sutherland, LB Chen, LF Eng, LF Eng, M Schachner, M Schachner, M Seppälä, NJ Wald, S Sarkar, T Voigtländer   +18 more
core   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Perioperative Anaesthetic Challenges in a Case of Lumbosacral Meningomyelocele: A Case Report [PDF]

Journal of Clinical and Diagnostic Research
Meningomyelocele is a congenital neural tube defect caused due to incomplete closure of the neural tube during foetal development. In meningomyelocele, a sac is formed due to herniation of the neural tissues and cerebrospinal fluid through defective ...
Poornima Dhakshinamurthy, Shyamolima Bhuyan   +1 more
doaj   +1 more source

Knowledge and practice of urban Iranian pregnant women towards folic acid intake for neural tube defect prevention. [PDF]

, 2012
To assess the knowledge and practice of urban Iranian pregnant women regarding periconceptional folic acid intake for neural tube defect (NTD) prevention.
Golalipour, M.J., Nosrat, S.B., Sedehi, M.   +2 more
core  

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Spatiotemporal expression of leukemia inhibitory factor receptor protein during neural tube development in embryos with neural tube defects

Neural Regeneration Research, 2020
Leukemia inhibitory factor receptor (LIFR), as a neuroregulatory cytokine receptor, generally shows a neuroprotective effect in central nervous system injuries.
Dong An, Xiao-Wei Wei, He-Nan Zhang, Dan Liu, Wei Ma, Zheng-Wei Yuan   +5 more
doaj   +1 more source

Giant occipital encephalocele: a case report, surgical and anesthetic challenge and review of literature

Egyptian Journal of Neurosurgery, 2021
Background An encephalocele is a congenital neural tube defect characterized by herniation of cranial contents through a defect in the cranium and is caused by failure of the closure of the cranial part of the developing neural tube.
Soha Zahid, Ahtesham Khizar
doaj   +1 more source