Sara K Custer

发表

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.

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

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

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

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

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.

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.

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

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

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.

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.

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.

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.

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

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