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ABSTRACT: Vegas

PROVIDER: PRJNA982741 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR24894430_1.fastq.gz	Fastqsanger.gz
	SRR24894430_2.fastq.gz	Fastqsanger.gz
	SRR24894431_1.fastq.gz	Fastqsanger.gz
	SRR24894431_2.fastq.gz	Fastqsanger.gz
	SRR24894432_1.fastq.gz	Fastqsanger.gz

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Project description:Germanos M1*. Yau B1*. Taper M1. An Y1. Yeoman C1. Wilson A1. Cattin-Ortolá J2. Maslar D3. Tong J1. Naghiloo S1. Needham E4. Diaz-Vegas A4. Larance M1. Thomas H5. Seidah NG6. von Blume J7. James DE4. Thorn P1. Ailion M2. Asensio C3. Kebede MA1. 1 School of Medical Sciences, Charles Perkins Centre, The University of Sydney, Camperdown, New South Wales, Australia. 2 Department of Biochemistry, University of Washington, Seattle, WA USA. 3 Department of Biological Sciences, University of Denver, Denver, Colorado 80210, United States. 4 Discipline of Biochemistry and Molecular Biology, School of Life and Environmental Sciences, Charles Perkins Centre, The University of Sydney, Camperdown, New South Wales, Australia. 5 Department of Medicine, St Vincent's Hospital, University of Melbourne, Fitzroy, Melbourne, Victoria, Australia. 6 Laboratory of Biochemical Neuroendocrinology, Institut de Recherches Cliniques de Montréal, Montreal, QC, Canada. 7 Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06510.. *These authors contributed equally. Abstract Here we investigate the role of Cab45 in β-cell function and insulin secretory granule (ISG) biogenesis. Cab45 has been known as a ubiquitously expressed, soluble, trans-Golgi network (TGN) resident protein. We demonstrate its expression in pancreatic islets but not exocrine tissue, and localization in both Golgi and granular/vesicular compartments of primary β-cells. In INS1 cells, Cab45 is held in the cis-Golgi by a calcium-dependent mechanism but is capable of anterograde trafficking beyond the TGN. ISG biogenesis is maintained in Cab45 knockout INS1 cells which exhibit insulin hypersecretion due to dysregulated calcium homeostasis, leading to ISG depletion that is reinstated by rest at low glucose or Cab45 overexpression. Overexpressed Cab45 traffics directly into ISGs and increases biogenesis. Expression of a Cab45 variant that cannot bind calcium drives superior ISG rescue and has reduced ISG residency. In humans, anterograde Cab45 trafficking increases with worsening obesity, suggesting recruitment to drive cargo transit and support secretory output. Humans with type 2 diabetes, however, contain a greater proportion of Cab45-occupied ISGs and a loss of Golgi-localized Cab45 compared to non-diabetics. These insights position Cab45 as an exciting candidate for further investigation into mechanisms associated with β-cell compensation and failure.

Project description:In Charcot-Marie-Tooth Disease (CMT) or inherited neuropathy research studies, it is the researcher who has selected what they believe to be important markers of impairment in function in patients. For example, it has been inferred that the wearing of ankle-foot-orthosis (AFOs), the use of walking aids such as canes, or the use of wheelchairs, are appropriate markers for “mild”, “moderate” or “severe” disability, respectively. Whether patients agree with this classification is unknown. By understanding what patients classify as mild, moderate and severe disability in CMT, we will know what our treatments need to target, to have a meaningful impact on the patients' functional status. Primary objective: The purpose of this study is to compare patient and healthcare provider impressions of what constitutes mild, moderate and severe disability in CMT. Target population: 200 patients who have self-registered at the Inherited Neuropathy Consortium Contact Registry, a web-based contact registry developed and supported by the Data Management and Coordinating Center (DMCC) for the Rare Diseases Clinical Research Consortium (RDCRN), located at the University of South Florida, and 200 health care professionals attending conferences about CMT, such as the 4th International CMT Consortium to be held in Potomac, Maryland, June 29-July 1, 2011 and the MDA Clinic Directors meeting in Las Vegas, NV March 4-7, 2012. Methods: A brief, anonymous, 20-item survey, in which we measure what the physician and the patient think are important indicators of disability in CMT, will be distributed by paper to 200 health care professionals, and via an online link to 200 patients self-registered with the RDCRN contact registry. Out of the 200 patients, approximately 25 patients will be requested to take the survey twice in a 2 to 4 week period. Analysis: We will measure the agreement between items in the physician and patient groups, and use items with high agreement in a Disability Severity Index.

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