Results 121 to 130 of about 1,967 (171)

The Pathogenesis of Familial Dysautonomia is Explained by Abnormal Elp1‐dependent Retrograde Nerve Growth Factor (NGF) Signaling

The FASEB Journal, 2015
Familial Dysautonomia (FD; Riley‐Day Syndrome; HSAN3) is characterized by debilitating sensory and sympathetic neuropathy. It is caused by a germline mutation of the Elp1 gene that leads to mis‐splicing and loss of Elp1 protein primarily in sympathetic and sensory neurons.
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ELP1’s Role in Cerebellar Development: Implications for Familial Dysautonomia and SHH-Medulloblastoma

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. On the one hand, they can cause neuronal degeneration, which may manifest as cerebellar ataxias and other neurological disorders.
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MDB-13. GERMLINEELP1 DEFICIENCY SENSITIZES CEREBELLAR GRANULE NEURON PROGENITORS TO SHH MEDULLOBLASTOMA [PDF]

Shiekh Tanveer Ahmad, Jesús García-López, Yiran Li, Brian Gudenas, Jennifer Hadley, Leena Paul, Melissa Batts, Taha Soliman, Marija Kojic, Aaron Pitre, F. Manz, Frédérique Zindy, Alun Jones, Anand Mayasundari, Brandon Bianski, Christopher L. Tinkle, Abbas Shirinifard, Laura J. Janke, Meifen Lu, Stefan M. Pfister, Amar Gajjar, Suzanne J. Baker, Martine F. Roussel, Zoran Ranković, Sebastian M. Waszak, Giles Robinson, Brent A. Orr, Brandon J. Wainwright, Lena M Kutscher, Hong Lin, Paul A. Northcott   +30 more
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Autophosphorylation of conserved yeast and human casein kinase 1 isozymes regulates Elongator-dependent tRNA modifications. [PDF]

Nucleic Acids Res
Landrock MF, Krutyhołowa R, Böhnert P, Mazur J, Honc M, Hammermeister A, Bessler L, Scherf D, Elms A, Radczuk N, Skupien-Rabian B, Jankowska U, Herberg FW, Helm M, Klassen R, Glatt S, Schaffrath R.   +16 more
europepmc   +1 more source

Towards a WHO classification of genetic tumour syndromes. [PDF]

Med Genet
Siebert R, Foulkes WD.
europepmc   +1 more source

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia

Hu Cheng, Swanand Koli, Kate J. Lewis, Yasaman Anvarinia, Yating Liu, Morgan Erdoes, Caitlin Elizabeth Keiper, Reynette Estelien, Matthew Chagnon, Luk H Vandenberghe, Dadi Gao, Frances Lefcort, Elisabetta Morini, Susan A Slaugenhaupt, Anil Chekuri   +14 more
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TDP-43 nuclear loss in FTD/ALS causes widespread alternative polyadenylation changes. [PDF]

Nat Neurosci
Zeng Y, Lovchykova A, Akiyama T, Rayner SL, Maheswari Jawahar V, Liu C, Sianto O, Guo C, Calliari A, Prudencio M, Dickson DW, Petrucelli L, Gitler AD.   +12 more
europepmc   +1 more source

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

, 2017
Berish Y. Rubin, Sylvia L. Anderson
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Upregulation of ELP3 in acinar cells during acute pancreatitis is dispensable for homeostasis, inflammation, regeneration, and cancer initiation. [PDF]

Sci Rep
Aajja E, Lefort H, Mahibullah S, Leclercq M, Aney KJ, Nissim S, Nguyen L, Chariot A, Henriet P, Tyteca D, Close P, Pierreux CE.   +11 more
europepmc   +1 more source

YTK Display-and-Secrete: Screening for Optimal Protein Secretion Elements in <i>Saccharomyces cerevisiae</i>. [PDF]

ACS Synth Biol
Kishkevich A, Ciurkot K, Ellis T.
europepmc   +1 more source