Renato Santos
Instituto Nacional de Saúde Dr. Ricardo Jorge
GeneInduced pluripotent stem cellCompound heterozygosityLoss of heterozygosityDominance (genetics)SphingolipidosesGlucocerebrosidaseBiology
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Publications 2
Sphingolipidoses are inherited genetic diseases characterized by the accumulation of glycosphingolipids. Sphingolipidoses (SP), which usually involve the loss of sphingolipid hydrolase function, are of lysosomal origin, and represent an important group of rare diseases among lysosomal storage disorders. Initial treatments consisted of enzyme replacement therapy, but, in recent decades, various therapeutic approaches have been developed. However, these commonly used treatments for SP fail to be f...
1 CitationsSource
#1A.J. Duarte (University of the Algarve)
#2Diogo Ribeiro (Instituto Nacional de Saúde Dr. Ricardo Jorge)H-Index: 4
Last. O. Amaral (Instituto Nacional de Saúde Dr. Ricardo Jorge)H-Index: 5
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Abstract Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases. Mutations in glucocerebrosidase 1 (GBA1) commonly lead to abnormal protein and GD, heterozygosity is a genetic risk factor for Parkinson's disease. This work describes the use of a non-integrative approach using Sendai Virus delivery to establish iPSCs from fibroblasts from a GD type 3 patient. Differentiation of induced Pluripotent Ste...
1 CitationsSource