Výsledky vyhledávání - "Sarah E. Holbrook"

Clinically relevant mouse models of Charcot-Marie-Tooth Type 2S

Autor: Paige B Martin, Sarah E Holbrook, Amy N Hicks, Timothy J Hines, Laurent P Bogdanik, Robert W Burgess, Gregory A Cox

Publikováno v: Human molecular genetics.

Charcot–Marie–Tooth disease is an inherited peripheral neuropathy that is clinically and genetically heterogenous. Mutations in IGHMBP2, a ubiquitously expressed DNA/RNA helicase, have been shown to cause the infantile motor neuron disease spinal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abe580cc200242013b5e6207ec7bc9e
https://pubmed.ncbi.nlm.nih.gov/36413117

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Germline Maintenance Through the Multifaceted Activities of GLH/Vasa in Caenorhabditis elegans P Granules

Autor: Dustin L. Updike, Sarah E. Holbrook, J. Heath Fuqua, Jesse D. Rochester, Catherine S. Sharp, Emily L. Xu, Elisabeth A. Marnik

Publikováno v: Genetics

Vasa homologs are ATP-dependent DEAD-box helicases, multipotency factors, and critical components that specify and protect the germline. They regulate translation, amplify piRNAs, and act as RNA solvents; but, the limited availability of mutagenesis-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72afaf4b8029c361315d97c898755a6e
http://europepmc.org/articles/PMC6827368

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Overlapping spectrums: the clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases

Autor: Sarah E. Holbrook, Paige B. Martin, Amy Hicks, Gregory A. Cox

Publikováno v: Brain Res

Charcot-Marie-Tooth (CMT) disease is a progressive and heterogeneous inherited peripheral neuropathy. A myriad of genetic factors have been identified that contribute to the degeneration of motor and sensory axons in a length-dependent manner. Emergi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0f9f9aae7ab6ddb17371ffdec221925
https://europepmc.org/articles/PMC6939129/

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Affective Behavior in Withdrawal Seizure-Prone and Withdrawal Seizure-Resistant Mice during Long-Term Alcohol Abstinence

Autor: Sarah E. Holbrook, Alan M. Rosenwasser, John C. Crabbe, Megan M. Haney, Matthew C. Hartmann

Publikováno v: Alcohol Clin Exp Res

Background While the acute alcohol withdrawal syndrome has been well characterized both in human clinical studies and in experimental animals, much less is known regarding long-term affective disturbances that can sometimes persist during protracted

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e7835b35bb8340010efaba5eef838f
https://pubmed.ncbi.nlm.nih.gov/31046129

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