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Mukherjee Lab: Section on Developmental Genetics

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Overview

Anil Mukherjee's Section on Developmental Genetics conducts both laboratory and clinical investigations to understand the molecular mechanism(s) of heritable childhood neurodegenerative diseases and inflammatory/autoimmune disorders. Investigations focus primarily on two genes: palmitoyl-protein thioesterase-1, mutation of which causes infantile Batten disease (IBD), and uteroglobin (UG), an anti-inflammatory protein. UG-knockout mice develop IgA-nephropathy, allergic airway inflammation, and tumor susceptibility. During the past year, the Section showed that (1) in PPT1-KO mice, a model for IBD, increased cystolic phospholipase A2–catalyzed production of lysophosphatidylcholine in the brain mediated microglial recruitment and activation; (2) oxidative and ER stress are common manifestations of both neurodegenerative and non-neurodegenerative storage disorders; and (3) mice lacking UG are highly susceptible to pulmonary fibrosis. The Section is continuing a clinical trial to determine if a combined regimen of Cystagon™ and N-acetylcysteine (Mucomyst®) is beneficial for patients with IBD.

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Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012

Contact Information

Name: Dr Anil B Mukherjee
Senior Investigator
Section on Developmental Genetics
Phone:301-496-7213
Fax: 301-402-6632
Email: mukherja@exchange.nih.gov.

Staff Directory
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