Search Results - "Bradshaw, Teisha Y."
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A reduction in Drp1-mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay
Published in Human molecular genetics (01-08-2016)“…The neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is caused by loss of function of sacsin, a modular protein…”
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Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension
Published in Human mutation (01-12-2011)“…Heterozygous germline mutations of BMPR2 contribute to familial clustering of pulmonary arterial hypertension (PAH). To further explore the genetic basis of…”
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Journal Article -
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Published in American journal of human genetics (13-05-2011)“…Regulation of cell proliferation and motility is essential for normal development. The Rho family of GTPases plays a critical role in the control of cell…”
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Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin
Published in Human molecular genetics (15-08-2017)“…Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in the gene SACS, encoding the 520 kDa protein sacsin. Although…”
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Late Presentation of Chronic Traumatic Encephalopathy in a Former Association Football Player
Published in Movement disorders clinical practice (Hoboken, N.J.) (01-09-2023)“…Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease characterized by widespread accumulation of hyperphosphorylated tau that typically occurs…”
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Journal Article -
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Oncometabolite induced primary cilia loss in pheochromocytoma
Published in Endocrine-related cancer (01-01-2019)“…Primary cilia are sensory organelles involved in regulation of cellular signaling. Cilia loss is frequently observed in tumors; yet, the responsible mechanisms…”
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Journal Article -
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The cellular phenotype of the neurodegenerative disease autosomal recessive spastic ataxia of charlevoix-saguenay
Published 01-01-2014“…Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is an early onset neurodegenerative disorder resulting from mutations in the SACS gene that…”
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Dissertation