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Identificación de HE1 como el segundo gen de la enfermedad de Niemann-Pick C

S Naureckiene1, D E Sleat, H Lackland

  • 1Center for Advanced Biotechnology and Medicine, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, Piscataway, NJ, 08854, USA.

Science (New York, N.Y.)
|December 23, 2000
PubMed
Resumen

La enfermedad de Niemann-Pick tipo C2 (NP-C2) resulta de una deficiencia en la proteína HE1, que es crucial para el transporte del colesterol desde los lisosomas. La restauración de los niveles de proteína HE1 en las células del paciente mejoró la regulación del colesterol.

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