Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Research Project (R01)
Project #
5R01NS015182-18
Application #
2262766
Study Section
Special Emphasis Panel (ZRG1-NEUB-1 (03))
Project Start
1987-07-01
Project End
1998-06-30
Budget Start
1996-07-01
Budget End
1997-06-30
Support Year
18
Fiscal Year
1996
Total Cost
Indirect Cost

  Institution

Name
Columbia University (N.Y.)
Department
Pathology
Type
Schools of Medicine
DUNS #
167204994
City
New York
State
NY
Country
United States
Zip Code
10032

  Publications

Liem, Ronald K H; Messing, Albee (2009) Dysfunctions of neuronal and glial intermediate filaments in disease. J Clin Invest 119:1814-24
Ching, Gee Y; Liem, Ronald K H (2009) RE1 silencing transcription factor is involved in regulating neuron-specific expression of alpha-internexin and neurofilament genes. J Neurochem 109:1610-23
Goryunov, Dmitry; Nightingale, Andrew; Bornfleth, Lorelei et al. (2008) Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization. J Neurochem 104:1536-52
Kabzinska, Dagmara; Perez-Olle, Raul; Goryunov, Dmitry et al. (2006) Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models. J Peripher Nerv Syst 11:225-31
Perez-Olle, Raul; Lopez-Toledano, Miguel A; Goryunov, Dmitry et al. (2005) Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport. J Neurochem 93:861-74
Perez-Olle, Raul; Jones, Sidonie T; Liem, Ronald K H (2004) Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. Hum Mol Genet 13:2207-20
Perez-Olle, Raul; Lopez-Toledano, Miguel A; Liem, Ronald K H (2004) The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants. J Neuropathol Exp Neurol 63:759-74
Leung, Conrad L; He, Cui Zhen; Kaufmann, Petra et al. (2004) A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain Pathol 14:290-6
Leung, Conrad L; Green, Kathleen J; Liem, Ronald K H (2002) Plakins: a family of versatile cytolinker proteins. Trends Cell Biol 12:37-45
Perez-Olle, Raul; Leung, Conrad L; Liem, Ronald K H (2002) Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. J Cell Sci 115:4937-46

Showing the most recent 10 out of 49 publications