Marian M. DiFiglia, MD, PhD, is Principal Investigator the Cellular Neurobiology Laboratory at Mass General Hospital.

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Research Investigator Profile

Marian Difiglia, PhD

Marian M. DiFiglia, MD, PhD

  • Professor of Neurology,
    Harvard Medical School

 

 

 

 

Research Description

Marian DiFiglia leads a multidisciplinary research team investigating the role of the HD mutation in the molecular and cellular events leading to neurodegeneration. Her research efforts use engineered neuronal cell lines, transgenic animals and the HD postmortem brain for studying the pathogenesis and potential treatments for HD.

To learn more, visit Dr. Difiglia's Cellular Neurobiology Lab.

Research interests Neuropathology of human Huntington’s disease
Research techniques Molecular and cellular biology, transgenics
Diseases studied Huntington’s disease
Selected publications
  1. DiFiglia M, Sena-Esteves M, Chase K, Sapp E, Pfister E, Sass M, Yoder J, Reeves P, Pandey RK, Rajeev KG, Manoharan M, Sah DW, Zamore PD, Aronin N. Therapeutic silencing of mutant huntingtin with siRNA attenuates striatal and cortical neuropathology and behavioral deficits. Proc Natl Acad Sci U S A. 2007 Oct 23;104(43):17204-9. Epub 2007 Oct 16. PMID: 17940007
  2. Rubinsztein DC, DiFiglia M, Heintz N, Nixon RA, Qin ZH, Ravikumar B, Stefanis L, Tolkovsky A. Autophagy and its possible roles in nervous system diseases, damage and repair. Autophagy. 2005 Apr;1(1):11-22. Epub 2005 Apr 30. Review. PMID: 16874045
  3. Kim YJ, Sapp E, Cuiffo BG, Sobin L, Yoder J, Kegel KB, Qin ZH, Detloff P, Aronin N, DiFiglia M. Lysosomal proteases are involved in generation of N-terminal huntingtin fragments. Neurobiol Dis. 2006 May;22(2):346-56. Epub 2006 Jan 19. PMID: 16423528
  4. Kalanithi PS, Zheng W, Kataoka Y, DiFiglia M, Grantz H, Saper CB, Schwartz ML, Leckman JF, Vaccarino FM. Altered parvalbumin-positive neuron distribution in basal ganglia of individuals with Tourette syndrome. Proc Natl Acad Sci U S A. 2005 Sep 13;102(37):13307-12. Epub 2005 Aug 30. PMID: 16131542
  5. Kegel KB, Sapp E, Yoder J, Cuiffo B, Sobin L, Kim YJ, Qin ZH, Hayden MR, Aronin N, Scott DL, Isenberg G, Goldmann WH, DiFiglia M. Huntingtin associates with acidic phospholipids at the plasma membrane.J Biol Chem. 2005 Oct 28;280(43):36464-73. Epub 2005 Aug 5. PMID: 16085648
NCBI PubMed link NCBI PubMed Publications
E-mail address mdifiglia@partners.org
Lab mailing address MassGeneral Institute for Neurodegenerative Disease
114 16th Street
Charlestown, MA 02129

 

 

Updated 02/9/2012

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