Results 21 to 30 of about 1,253 (161)

TaELP2 Interacts With TaDCL1 and Negatively Regulates Wheat Resistance Against Stripe Rust. [PDF]

Mol Plant Pathol
TaELP2 negatively regulates wheat stripe rust resistance by inducing alternative splicing of RNA silencing genes and promoting the degradation of disease‐resistance genes via its interaction with TaDCL1. ABSTRACT Wheat (Triticum aestivum) is an important staple food crop worldwide, playing a fundamental role in global food security.
Li M, Chen Y, Guo S, Zhang Z, Wang J, Kang Z, Zhang X.   +6 more
europepmc   +2 more sources

Leishmania donovani elongator protein Elp3a plays a crucial role in modulating the parasite response to genotoxic stress [PDF]

Microbiology Spectrum
The eukaryotic elongator complex comprises six proteins Elp1–Elp6, with Elp3 being the catalytic subunit. In trypanosomatids, only Elp3 has been identifiable, and interestingly, these organisms have two Elp3 orthologs: Elp3a and Elp3b.
Arushi Khanna, Shilpa Rohra, Swati Saha
doaj   +2 more sources

An Elongator mouse model of ALS spotlights TDP-43 in the motor neuron nucleolus [PDF]

Communications Biology
Dysfunction of Elongator is associated with amyotrophic lateral sclerosis (ALS). Here, we describe mouse models in which either Elongator subunit 1(Elp1) or subunit 3 (Elp3) is selectively ablated in alpha motor neurons of the spinal cord.
Magge Snow, BreAnna Cameron, Renzie Pond, Rachel Trudell, Sara Snyder, Lauryn Torres-Hernandez, Devyn Deschamps, Danara Tulimaiau, Kiana Hawkinson, Morgan Russell, Danielle Horan, Joseph Walters, James H. Fox, Britni Arlian, Alain Chariot, Laurent Nguyen, Lynn George   +16 more
doaj   +2 more sources

Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report [PDF]

Rare Tumors
Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by a diverse clinical presentation, which includes developmental abnormalities and tumorigenesis that can impact multiple organ systems.
Yutong Liu, Xuejun Gao, Lianjing Cao, Jizhen Ren, Yuanxin Miao, Xia Cai   +5 more
doaj   +2 more sources

Retina-specific loss of Ikbkap/Elp1 causes mitochondrial dysfunction that leads to selective retinal ganglion cell degeneration in a mouse model of familial dysautonomia

Disease Models & Mechanisms, 2018
Familial dysautonomia (FD) is an autosomal recessive disorder marked by developmental and progressive neuropathies. It is caused by an intronic point-mutation in the IKBKAP/ELP1 gene, which encodes the inhibitor of κB kinase complex-associated protein ...
Yumi Ueki, Veronika Shchepetkina, Frances Lefcort   +2 more
doaj   +2 more sources

Obesity-associated gene mutations across cancer types: a pan-cancer analysis of TCGA data [PDF]

BJC Reports
Background Obesity is a recognized risk factor for numerous cancers. Although several biological mechanisms have been proposed to explain obesity-associated carcinogenesis, the extent to which excess adiposity influences tumor genomic profiles remains ...
Gaetana Porcelli, Rosario Nicola Brancaccio, Sebastiano Di Bella, Caterina D’Accardo, Francesco Orilio, Vincenzo Davide Pantina, Chiara Modica, Francesco Verona, Paola Bianca, Cesare Morgante, Simone Di Franco, Miriam Gaggianesi, Veronica Veschi, Giorgio Stassi, Alice Turdo, Matilde Todaro   +15 more
doaj   +2 more sources

ELP1’s Role in Cerebellar Development: Implications for Familial Dysautonomia and SHH-Medulloblastoma [PDF]

The cerebellum plays a pivotal role in the coordination of motor movement, behavior, and language. Abnormalities in cerebellar development can have two opposing, catastrophic effects.
Arnskötter, Carl Frederik
core   +2 more sources

IKBKAP/ELP1 gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies

The Application of Clinical Genetics, 2017
Berish Y Rubin, Sylvia L Anderson Department of Biological Sciences, Fordham University, Bronx, NY, USA Abstract: The successful completion of the Human Genome Project led to the discovery of the molecular basis of thousands of genetic disorders ...
Rubin BY, Anderson SL
doaj   +5 more sources

Immunohistochemistry as a tool to identify ELP1-associated medulloblastoma [PDF]

Acta Neuropathologica, 2022
Abstract Pediatric spinal low-grade glioma (LGG) and glioneuronal tumours are rare, accounting for less 2.8–5.2% of pediatric LGG. New tumour types frequently found in spinal location such as diffuse leptomeningeal glioneuronal tumours (DLGNT) have been added to the World Health Organization (WHO) classification of tumours of the central nervous system
Tauziède-Espariat, Arnault, Guerrini-Rousseau, Léa, Perrier, Alexandre, Torrejon, Jacob, Bernardi, Flavia, Varlet, Pascale, Hasty, Lauren, Delattre, Olivier, Beccaria, Kévin, Métais, Alice, Ayrault, Olivier, Chrétien, Fabrice, Bourdeaut, Franck, Dufour, Christelle, Masliah-Planchon, Julien   +14 more
openaire   +3 more sources

ELP1 gene augmentation restores visual function in a mouse model of familial dysautonomia. [PDF]

Mol Ther
Abstract Familial dysautonomia (FD) is an autosomal recessive sensory and autonomic neurodevelopmental and degenerative disorder characterized by complex neurological phenotypes. One of its most debilitating features is progressive optic neuropathy, which leads to severe visual impairment in FD patients by the third ...
Cheng HC, Koli S, Lewis K, Ketchale S, Anvarinia Y, Erdoes M, Liu Y, Keiper CE, Estelien R, Chagnon M, Vandenberghe LH, Gao D, Lefcort F, Morini E, Slaugenhaupt SA, Chekuri A.   +15 more
europepmc   +5 more sources