S. Custer

发表

Altered mRNA Splicing in SMN-Depleted Motor Neuron-Like Cells

E. Androphy, Yunlong Liu, Hai Lin, 2016, PLoS ONE.

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone.

A. Wright, J. Taylor, Hongbo Lu, 2010, Human molecular genetics.

SMN deficiency negatively impacts red pulp macrophages and spleen development in mouse models of spinal muscular atrophy

C. Lorson, E. Androphy, C. Franklin, 2017, Human molecular genetics.

Interaction between alpha-COP and SMN ameliorates disease phenotype in a mouse model of spinal muscular atrophy.

E. Androphy, Hong Li, S. K. Custer, 2019, Biochemical and biophysical research communications.

Abnormal Golgi morphology and decreased COPI function in cells with low levels of SMN

E. Androphy, J. Astroski, S. Custer, 2019, Brain Research.

In vitro and in vivo effects of 2,4 diaminoquinazoline inhibitors of the decapping scavenger enzyme DcpS: Context-specific modulation of SMN transcript levels

Timothy L. Foley, E. Androphy, Baohong Zhang, 2017, PloS one.

Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport

A. Spada, G. Garden, C. Schultz, 2006, Nature Neuroscience.

TDP-43 Mediates Degeneration in a Novel Drosophila Model of Disease Caused by Mutations in VCP/p97

J. Trojanowski, V. Lee, Brian D. Freibaum, 2010, The Journal of Neuroscience.

Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy

E. Androphy, S. K. Custer, S. Custer, 2014, Molecular and Cellular Neuroscience.

Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy.

E. Androphy, A. G. Todd, S. K. Custer, 2013, Human molecular genetics.

Spinalmuscularatrophy(SMA)isadevastatingneuromusculardisorderthatstemsfromlowlevelsofsurvivalof motorneuron(SMN)protein.Theprocessesthatcausemotorneuronsandmusclecellstobecomedysfunction- alareincompletelyunderstood.Weareinterestedinneuromuscularhomeostasisandthestressesputuponthat

E. Androphy, A. G. Todd, N. Singh, 2013 .

Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.

L. Ellerby, A. L. La Spada, Sylvia F. Chen, 2015, Human molecular genetics.

Mutations in the COPI coatomer subunit α-COP induce release of Aβ-42 and amyloid precursor protein intracellular domain and increase tau oligomerization and release

E. Androphy, J. Astroski, S. Custer, 2021, Neurobiology of Aging.

α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth.

E. Androphy, L. Hao, C. Beattie, 2015, Human molecular genetics.