Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches
نویسندگان
چکیده
منابع مشابه
The molecular basis of Sanfilippo syndrome type B.
The Sanfilippo syndrome type B is a lysosomal storage disorder caused by deficiency of alpha-N-acetylglucosaminidase; it is characterized by profound mental deterioration in childhood and death in the second decade. For understanding the molecular genetics of the disease and for future development of DNA-based therapy, we have cloned the cDNA and gene encoding alpha-N-acetylglucosaminidase. Clo...
متن کاملMolecular defects in Sanfilippo syndrome type A.
Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC 3.10.1.1) required for the degradation of heparan sulphate. In this study, molecular defects in the sulphamidase gene of MPS-IIIA patients were investigated in a group of 10 patients of Australian and American ...
متن کاملHuntington's disease: Molecular basis of pathology and status of current therapeutic approaches
Huntington's disease (HD) is a frequent and incurable hereditary neurodegenerative disorder that impairs motor and cognitive functions. Mutations in huntingtin (HTT) protein, which is essential for neuronal development, lead to the development of HD. An increase in the number of CAG repeats within the HTT gene, which lead to an expansion of polyglutamine tract in the resulting mutated HTT prote...
متن کاملMolecular basis of therapeutic approaches to gastric cancer.
Gastric cancer is the top lethal cancer in Asia. As the majority of cases present with advanced disease, conventional therapies (surgery, chemotherapy, and radiotherapy) have limited efficacy to reduce mortality. Emerging modalities provide promise to combat this malignancy. Target-protein-based cancer therapy has become available in clinical practice. Numerous molecules have been shown potenti...
متن کاملAmblyopia: neural basis and therapeutic approaches.
Abnormalities in visual processing caused by visual deprivation or abnormal binocular interaction may induce amblyopia, which is characterized by reduced visual acuity. Occlusion therapy, the conventional treatment, requires special attention as occlusion of the fellow normal eye may reduce its visual acuity and impair binocular vision. Besides recovering visual acuity, some researchers have re...
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: International Journal of Molecular Sciences
سال: 2020
ISSN: 1422-0067
DOI: 10.3390/ijms21217819