Search Results - "A. Gutierrez, Mark"

TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics by Hoff, Katelyn J, Aiken, Jayne E, Gutierrez, Mark A, Franco, Santos J, Moore, Jeffrey K

“…Heterozygous, missense mutations in α- or β-tubulin genes are associated with a wide range of human brain malformations, known as tubulinopathies. We seek to…”
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Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD by Sonnet, Davis S., O’Leary, Monique N., A. Gutierrez, Mark, Nguyen, Steven M., Mateen, Samiha, Hsu, Yuehmei, P. Mitchell, Kylie, J. Lopez, Antonio, Vockley, Jerry, Kennedy, Brian K., Ramanathan, Arvind

“…Maple Syrup Urine Disease (MSUD) is an inherited disorder caused by the dysfunction in the branched chain keto-acid dehydrogenase (BCKDH) enzyme. This leads to…”
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Tubulinopathy mutations in TUBA1A that disrupt neuronal morphogenesis and migration override XMAP215/Stu2 regulation of microtubule dynamics by Hoff, Katelyn J, Aiken, Jayne E, Gutierrez, Mark A, Franco, Santos J, Moore, Jeffrey K

“…Heterozygous, missense mutations in a- or b-tubulin genes are associated with a wide range of human brain malformations, known as tubulinopathies. We seek to…”
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New complementary perspectives for inpatient physical function assessment: matched clinician-report and patient-report short form measures from the PROMIS adult physical function item bank by Kallen, Michael A., Brown, Heather E., Hatton, Joeffrey R., Doyle, William A., Murphy, Ryan, Elliott, Ryan, Gutierrez, Mark A., Catherwood, Emma L., Pitman, Heather P., Liu, Vincent X., Gershon, Richard C.

“…Purpose To develop two item content-matched, precise, score-level targeted inpatient physical function (PF) short form (SF) measures: one clinician-reported,…”
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Csmd2 Is a Synaptic Transmembrane Protein that Interacts with PSD-95 and Is Required for Neuronal Maturation by Gutierrez, Mark A, Dwyer, Brett E, Franco, Santos J

“…Mutations and copy number variants of the CUB and Sushi multiple domains 2 ( ) gene are associated with neuropsychiatric disease. encodes a single-pass…”
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A novel AhR ligand, 2AI, protects the retina from environmental stress by Gutierrez, Mark A., Davis, Sonnet S., Rosko, Andrew, Nguyen, Steven M., Mitchell, Kylie P., Mateen, Samiha, Neves, Joana, Garcia, Thelma Y., Mooney, Shaun, Perdew, Gary H., Hubbard, Troy D., Lamba, Deepak A., Ramanathan, Arvind

“…Various retinal degenerative diseases including dry and neovascular age-related macular degeneration (AMD), retinitis pigmentosa, and diabetic retinopathy are…”
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Csmd2 Is a Synaptic Transmembrane Protein that Interacts with PSD-95 and Is Required for Neuronal Maturation by Gutierrez, Mark A, Dwyer, Brett E, Franco, Santos J

“…Mutations and copy number variants of the CUB and Sushi multiple domains 2 ( ) gene are associated with neuropsychiatric disease. encodes a single-pass…”
Get full text