Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis | Journal of Negative Results in BioMedicine BioMed Central Research Peripheral nervous system manifestations in a Sandhoff disease mouse model nerve conduction myelin structure lipid analysis Melanie A McNally1 Rena C Baek1 Robin L Avila1 Thomas N Seyfried1 Gary R Strichartz2 and Daniel A Kirschner 1 Open Access Address 1Biology Department Boston College 140 Commonwealth Avenue Chestnut Hill MA 02467 USA and 2Pain Research Center Department of Anesthesiology Perioperative and Pain Medicine Harvard Medical School Brigham and Women s Hospital 75 Francis Street Boston MA 02115 USA Email Melanie A McNally - Rena C Baek - baekre@ Robin L Avila - avilaro@ Thomas N Seyfried - Gary R Strichartz - gstrichz@ Daniel A Kirschner - kirschnd@ Corresponding author Published 10 July 2007 Received 20 March 2007 Journal of Negative Results in BioMedicine 2007 6 8 doi l 477-5751-6-8 Accepted I0 July 2007 This article is available from http content 6 1 8 2007 McNally et al licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract__ Background Sandhoff disease is an inherited lysosomal storage disease caused by a mutation in the gene for the P-subunit Hexb gene of P-hexosaminidase A aP and B PP . The P-subunit together with the GM2 activator protein catabolize ganglioside GM2. This enzyme deficiency results in GM2 accumulation primarily in the central nervous system. To investigate how abnormal GM2 catabolism affects the peripheral nervous system in a mouse model of Sandhoff disease Hexb - we examined the electrophysiology of dissected sciatic nerves structure of
