Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin
نویسندگان
چکیده
منابع مشابه
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.
Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene, which encodes the beta-subunit of beta-hexosaminidase. GM2 ganglioside fails to be degraded and accumulates within lysosomes in cells of the periphery and the central nervous system (CNS). There are currently no therapies for the glycosphingolipid lysosomal storage ...
متن کاملSandhoff disease mimicking adult-onset bulbospinal neuronopathy.
A 32 year old male is described with an onset of upper limb postural tremor in adolescence followed by muscle cramps. Progressive proximal amyotrophy and weakness in the limbs developed late in the third decade. Examination disclosed, in addition, bilateral facial weakness and mild dysarthria. Enzyme studies revealed hexosaminidase A and B deficiency, indicating a diagnosis of Sandhoff disease....
متن کاملAssociations of diabetes mellitus with total life expectancy and life expectancy with and without cardiovascular disease.
BACKGROUND Diabetes mellitus is a recognized risk factor for cardiovascular disease (CVD) and mortality. However, limited information exists on the association of diabetes with life expectancy with and without CVD. We aimed to calculate the association of diabetes after age 50 years with life expectancy and the number of years lived with and without CVD. METHODS Using data from the Framingham...
متن کاملInhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin.
Gangliosides are found at high levels in neuronal tissues where they play a variety of important functions. In the gangliosidoses, gangliosides accumulate because of defective activity of the lysosomal proteins responsible for their degradation, usually resulting in a rapidly progressive neurodegenerative disease. However, the molecular mechanism(s) leading from ganglioside accumulation to neur...
متن کاملReproductive longevity and increased life expectancy.
BACKGROUND Female life expectancy in developed countries has increased by 30 years in the twentieth century. AIM To determine if there has been an increase in reproductive longevity. METHODS We analysed age-specific fertility data from birth statistics for the USA, Canada, Japan, France, Sweden, the UK and Australia. RESULTS Since 1940, birth rates for women aged 35 and over have declined...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1999
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.96.11.6388