Mutation of a tubulin-specific chaperone protein, TBCE, has been found to cause autosomal recessive Kenny-Caffey syndrome (KCS), a dwarfing syndrome associated with congenital hypoparathyroidism and mental retardation. A spontaneous mutant of the orthologous mouse gene, Tbce, was identified by other investigators in a murine model of peripheral motor neurodegeneration (pmn), implicating the chaperone in maintenance of the microtubule cytoskeleton in motor axons. Biochemical studies have confirmed that the disease pathophysiology is not caused by loss of tubulin folding function, suggesting a novel role for the protein. Interaction with a microtubule growth regulator, EB1 has been demonstrated, consistent with a role for TBCE in the organization of microtubules. Current work is focused on validating this proposed function and exploring the role of TBCE in maintaining microtubule stability. Defects in microtubule stability in neuronal cells appears to be a potential common pathogenic pathway disturbed in several neurodegenerative disorders, suggesting TBCE and its interactors as potential modifiers.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Dr. Diaz has not yet completed reporting of Industry relationships.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.
Dr. Diaz has not yet completed reporting of Industry relationships.
Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.
