[HTML][HTML] Genome instability from nuclear catastrophe and DNA damage
AE Mammel, EM Hatch - Seminars in cell & developmental biology, 2022 - Elsevier
The nuclear envelope compartmentalizes the eukaryotic genome, provides mechanical
resistance, and regulates access to the chromatin. However, recent studies have identified …
resistance, and regulates access to the chromatin. However, recent studies have identified …
Chromosome length and gene density contribute to micronuclear membrane stability
AE Mammel, HZ Huang, AL Gunn… - Life Science …, 2022 - life-science-alliance.org
Micronuclei are derived from missegregated chromosomes and frequently lose membrane
integrity, leading to DNA damage, innate immune activation, and metastatic signaling. Here, …
integrity, leading to DNA damage, innate immune activation, and metastatic signaling. Here, …
Schwann cell‐specific deletion of the endosomal PI 3‐kinase Vps34 leads to delayed radial sorting of axons, arrested myelination, and abnormal ErbB2‐ErbB3 …
AM Logan, AE Mammel, DC Robinson, AL Chin… - Glia, 2017 - Wiley Online Library
The PI 3‐kinase Vps34 (Pik3c3) synthesizes phosphatidylinositol 3‐phosphate (PI3P), a lipid
critical for both endosomal membrane traffic and macroautophagy. Human genetics have …
critical for both endosomal membrane traffic and macroautophagy. Human genetics have …
An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination
DC Robinson, AE Mammel, AM Logan… - ASN …, 2018 - journals.sagepub.com
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), …
caused by mutations in myotubularin-related (MTMR) proteins 2, 13, or 5 (CMT4B1/2/3), …
Distinct roles for the Charcot–Marie–Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination
AE Mammel, KC Delgado, AL Chin… - Human molecular …, 2022 - academic.oup.com
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 …
myotubularin-related 5 (MTMR5; also called SET binding factor 1, SBF1) shows a spectrum of …
Tolerating diabetes: an alternative therapeutic approach for diabetic neuropathy
NA Calcutt - ASN neuro, 2010 - journals.sagepub.com
It is becoming apparent that a number of pathogenic mechanisms contribute to diabetic
neuropathy, so that therapeutic interventions that target one particular mechanism may have …
neuropathy, so that therapeutic interventions that target one particular mechanism may have …
“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies
Charcot-Marie-Tooth neuropathy type 4 (CMT4) comprises a large group of genetically
heterogeneous progressive sensory motor neuropathies characterized by autosomal recessive …
heterogeneous progressive sensory motor neuropathies characterized by autosomal recessive …
Sexual Selection Does Not Increase the Rate of Compensatory Adaptation to a Mutation Influencing a Secondary Sexual Trait in Drosophila melanogaster
CH Chandler, A Mammel… - G3: Genes, Genomes …, 2020 - academic.oup.com
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 …
rate of adaptation to new environments and helping purge harmful mutations. While some …
Autosornal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family
We describe 10 patients from a large family with early onset motor and sensory neuropathy.
Six were still living at the time of the study. In all cases, early motor milestones had been …
Six were still living at the time of the study. In all cases, early motor milestones had been …
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma
R Hirano, H Takashima, F Umehara, H Arimura… - Neurology, 2004 - AAN Enterprises
The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth
disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense …
disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense …