Výsledky vyhledávání - "Anna E. Mammel"

Akademický článek

An Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination

Autor: Danielle C. Robinson, Anna E. Mammel, Anne M. Logan, Aubree A. Larson, Eric J. Schmidt, Alec F. Condon, Fred L. Robinson

Publikováno v: ASN Neuro, Vol 10 (2018)

Charcot-Marie-Tooth Disorder Type 4B (CMT4B) is a demyelinating peripheral neuropathy caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3), which regulate phosphoinositide turnover and endosomal trafficking. Although m

Externí odkaz: https://doaj.org/article/a295fcc206e2425bb7f75cb9f195c6ce

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Distinct roles for the Charcot–Marie–Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination

Autor: Anna E. Mammel, Alec F. Condon, Katherine C. Delgado, Andrea L. Chin, Yingming Wang, Fred L. Robinson, Sue A. Aicher, Jo Q. Hill, Lev M. Fedorov

Publikováno v: Hum Mol Genet

The form of Charcot–Marie–Tooth type 4B (CMT4B) disease caused by mutations in myotubularin-related 5 (MTMR5; also called SET binding factor 1, SBF1) shows a spectrum of axonal and demyelinating nerve phenotypes. This contrasts with the CMT4B sub

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee911fb37a1280625faffa0a24cabf7
https://europepmc.org/articles/PMC9190308/

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Chromosome length and gene density contribute to micronuclear membrane stability

Autor: Emily M. Hatch, Amanda Gunn, Emma Choo, Anna E Mammel, Heather Z Huang

Publikováno v: Life Science Alliance

Chromosome identity regulates the timing of nuclear membrane rupture in micronuclei, in part through an unexpected link between high gene density and improved nuclear lamina organization.
Micronuclei are derived from missegregated chromosomes an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d330f619ec0dffdb8e8654097afd7aee
https://pubmed.ncbi.nlm.nih.gov/34789512

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Genome instability from nuclear catastrophe and DNA damage

Autor: Anna E Mammel, Emily M. Hatch

Publikováno v: Semin Cell Dev Biol

The nuclear envelope compartmentalizes the eukaryotic genome, provides mechanical resistance, and regulates access to the chromatin. However, recent studies have identified several conditions where the nuclear membrane ruptures during interphase, bre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::057266aad3b2589614c20ed311f5d03f
https://europepmc.org/articles/PMC8494860/

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Schwann cell-specific deletion of the endosomal PI 3-kinase Vps34 leads to delayed radial sorting of axons, arrested myelination, and abnormal ErbB2-ErbB3 tyrosine kinase signaling

Autor: Anna E. Mammel, Fred L. Robinson, Danielle C. Robinson, Andrea L. Chin, Anne M. Logan, Alec F. Condon

Publikováno v: Glia. 65:1452-1470

The PI 3-kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3-phosphate (PI3P), a lipid critical for both endosomal membrane traffic and macroautophagy. Human genetics have implicated PI3P dysregulation, and endosomal trafficking in general, as a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3790b86fd3f1dd760f013ce3ccc03be8
https://doi.org/10.1002/glia.23173

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Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination

Autor: Andrea L. Chin, Yingming Wang, Sue A. Aicher, Fred L. Robinson, Katherine C. Delgado, Lev M. Fedorov, Anna E. Mammel, Jo Q. Hill, Alec F. Condon

The form of Charcot-Marie-Tooth type 4B (CMT4B) disease caused by mutations in myotubularin-related 5 (MTMR5; also called SET Binding Factor 1; SBF1) shows a spectrum of axonal and demyelinating nerve phenotypes. This contrasts with the CMT4B subtype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::722fc0b8a9779b01f2d121923805e8e6
https://doi.org/10.1101/843219

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Sexual selection does not increase the rate of compensatory adaptation to a mutation influencing a secondary sexual trait inDrosophila melanogaster

Autor: Ian Dworkin, Christopher H. Chandler, Anna E. Mammel

Publikováno v: G3: Genes, Genomes, Genetics, Vol 10, Iss 5, Pp 1541-1551 (2020)

Theoretical work predicts that sexual selection can enhance natural selection, increasing the rate of adaptation to new environments and helping purge harmful mutations. While some experiments support these predictions, remarkably little work has add

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2225ab1f0667a5c5163515d537d14ce8
https://doi.org/10.1101/686741

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An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination

Autor: Danielle C. Robinson, Aubree A. Larson, Alec F. Condon, Anna E. Mammel, Anne M. Logan, Fred L. Robinson, Eric J. Schmidt

Publikováno v: ASN NEURO
ASN Neuro, Vol 10 (2018)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91463d5a093c4d4d86be63fad3818d93
https://pubmed.ncbi.nlm.nih.gov/30419760

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How well do you know your mutation? Complex effects of genetic background on expressivity, complementation, and ordering of allelic effects

Autor: Kristen Hummel, Michael DeNieu, Christian Marier, Julie Holms, Anna E. Mammel, Christopher H. Chandler, David C. Tack, Leslie Marvin, Cody K. Porter, Ian Dworkin, Sudarshan Chari, Alycia Kowalski, Gayatri Sivaratnam, Anne Sonnenschein, Lin Choi, William Pitchers, Andrew Victory

Publikováno v: PLoS Genetics
PLoS Genetics, Vol 13, Iss 11, p e1007075 (2017)

For a given gene, different mutations influence organismal phenotypes to varying degrees. However, the expressivity of these variants not only depends on the DNA lesion associated with the mutation, but also on factors including the genetic backgroun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75de6410e618ea9d6f00fbc5000bd4e9
https://doi.org/10.1371/journal.pgen.1007075

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