Types A and B Niemann-Pick disease

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• 作者：Edward H. Schuchman ; ^{edward.schuchman@mssm.edu} ; Robert J. Desnick
• 关键词：Niemann-Pick ; Acid sphingomyelinase ; Sphingomyelin ; Mouse model ; Enzyme Replacement Therapy
• 刊名：Molecular Genetics and Metabolism
• 出版年：2017
• 出版时间：January-February 2017
• 年：2017
• 卷：120
• 期：1-2
• 页码：27-33
• 全文大小：228 K
• 卷排序：120

文摘

Seminal work from the laboratory of Dr. Rosco Brady defined the molecular basis of Types A, B and C Niemann-Pick disease (NPD), and paved the way for the development of the new therapies for these diseases. The demonstration that the enzyme acid sphingomyelinase (ASM) was deficient in patients with Types A and B NPD led to the first definitive diagnostic assays for this disorder, and the development of enzyme replacement therapy that is now being evaluated in clinical trials. This review will discuss the clinical, biochemical and molecular basis of Types A and B NPD, as well as the current status of therapy. The seminal contributions of Dr. Brady will be discussed.