Results 31 to 40 of about 1,967 (171)

Loss-of-function of IKAP/ELP1 [PDF]

Cell Adhesion & Migration, 2008
Familial dysautonomia (FD) is a hereditary neuronal disease characterized by poor development and progressive degeneration of the sensory and autonomic nervous system. Majority of FD (99.5%) results from a single nucleotide point mutation in the IKBKAP gene encoding IKAP, also known as elongation protein 1 (ELP1).
Tiina Naumanen, Lars Dan Johansen, Eleanor T. Coffey, Tuula Kallunki   +3 more
openalex   +4 more sources

Exploration of the binding determinants of protein phosphatase 5 (PP5) reveals a chaperone-independent activation mechanism. [PDF]

J Biol Chem
The protein phosphatase 5 (PP5) is normally recruited to its substrates by the molecular chaperones, heat shock protein 70 (Hsp70) and heat shock protein 90 (Hsp90).
Devi S, Charvat A, Millbern Z, Vinueza N, Gestwicki JE.   +4 more
europepmc   +3 more sources

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia [PDF]

The American Journal of Human Genetics, 2019
Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a splice mutation in Elongator complex protein 1 (ELP1, also known as IKBKAP); this mutation leads to variable skipping of exon 20 and to a drastic reduction of ELP1 in the nervous system.
Elisabetta Morini, Dadi Gao, Connor M. Montgomery, Monica Salani, Chiara Mazzasette, Tobias A. Krussig, Brooke Swain, Paula Dietrich, Jana Narasimhan, Vijayalakshmi Gabbeta, Amal Dakka, Jean Hedrick, Xin Zhao, Marla Weetall, Nikolai A. Naryshkin, Gregory R. Wojtkiewicz, Chien-Ping Ko, Michael E. Talkowski, Ioannis Dragatsis, Susan A. Slaugenhaupt   +19 more
openalex   +3 more sources

Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model [PDF]

Metabolites
Neurodegenerative retinal diseases such as glaucoma, diabetic retinopathy, Leber’s hereditary optic neuropathy (LHON), and dominant optic atrophy (DOA) are marked by progressive death of retinal ganglion cells (RGC).
Stephanann M. Costello, Anastasia Schultz, Donald Smith, Danielle Horan, Martha Chaverra, Brian Tripet, Lynn George, Brian Bothner, Frances Lefcort, Valérie Copié   +9 more
doaj   +2 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
Arnault Tauziède‐Espariat, Léa Guerrini‐Rousseau, Alexandre Perrier, Jacob Torrejón, Flavia Bernardi, Pascale Varlet, Lauren Hasty, Olivier Delattre, Kévin Beccaria, Alice Métais, Olivier Ayrault, Fabrice Chrétien, Franck Bourdeaut, Christelle Dufour, Julien Masliah‐Planchon   +14 more
openalex   +4 more sources

MDB-23. ELP1 GERMLINE DEFICIENCY SENSITIZES THE GRANULE NEURON LINEAGE TO SHH MEDULLOBLASTOMA AND EXPOSES NOVEL THERAPEUTIC VULNERABILITIES [PDF]

Neuro Oncol, 2023
Jesús García-López, Shiekh Tanveer Ahmad, Yiran Li, Brian Gudenas, Marija Kojic, Friedrik Manz, Barbara Jonchère, Anand Mayasundari, Aaron Pitre, Jennifer Hadley, Leena Paul, Melissa Batts, Stefan M. Pfister, Sebastian M. Waszak, Brandon Bianski, Christopher L. Tinkle, Brent A. Orr, Zoran Ranković, Giles Robinson, Brandon J. Wainwright, Lena M Kutscher, Hong Lin, Paul A. Northcott   +22 more
europepmc   +3 more sources

The Alteration of Proteomic Profiles in Hippocampus of Type 2 Diabetic Mice Associated With Cognitive Impairment [PDF]

Bioinformatics and Biology Insights
Clinical and experimental studies have demonstrated that type 2 diabetes mellitus (T2DM) affects the brain structure and function, in particular the hippocampus, leading to cognitive impairments.
Yoottana Janthakhin, Sirikran Juntapremjit, Karin Hummel, Ebrahim Razzazi-Fazeli, Sutin Kingtong   +4 more
doaj   +2 more sources

Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161 [PDF]

Familial Cancer, 2023
Abstract Recent genetic sequencing studies in large series’ of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in the ELP1 and GPR161 genes in causation of the MB
Miriam J. Smith, Emma R. Woodward, D. Gareth Evans   +2 more
openalex   +4 more sources

Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia [PDF]

SLAS Discovery, 2018
Familial dysautonomia (FD) is an autonomic and sensory neuropathy caused by a mutation in the splice donor site of intron 20 of the ELP1 gene. Variable skipping of exon 20 leads to a tissue-specific reduction in the level of ELP1 protein. We have shown that the plant cytokinin kinetin is able to increase cellular ELP1 protein levels in vivo and in ...
Monica Salani, Fabio Urbina, Anthony Brenner, Elisabetta Morini, Ranjit S. Shetty, C. Scott Gallagher, Emily A. Law, Sara Sunshine, Dylan J. Finneran, Graham D. Johnson, Lisa Minor, Susan Slaugenhaupt   +11 more
openalex   +3 more sources

(H)Elping nerve growth factor: Elp1 inhibits TrkA’s phosphatase to maintain retrograde signaling [PDF]

Journal of Clinical Investigation, 2020
Nerve growth factor (NGF) regulates many aspects of neuronal biology by retrogradely propagating signals along axons to the targets of those axons. How this occurs when axons contain a plethora of proteins that can silence those signals has long perplexed the neurotrophin field. In this issue of the JCI, Li et al.
David R. Kaplan, William C. Mobley
openalex   +5 more sources