Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin

Human Mutation

Volumn 32, Issue 2, 2011, Pages 191-197

  Welti, Stefan ^a   Kühn, Sonja ^a   D'Angelo, Igor ^a   Brügger, Britta ^b   Kaufmann, Dieter ^c   Scheffzek, Klaus ^a  

^a EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY OF ULM   (Germany)

Author keywords

Glycerophospholipid; Mass spectrometry; Missense mutation; Neurofibromatosis type 1; Pleckstrin homology; Sec14; Tumor suppressor; X ray crystallography

Indexed keywords

GLYCEROPHOSPHOLIPID; NEUROFIBROMIN;

ARTICLE; HUMAN; MISSENSE MUTATION; NEUROFIBROMATOSIS; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN STRUCTURE;

CELLS, CULTURED; CIRCULAR DICHROISM; CRYSTALLOGRAPHY, X-RAY; GENE DELETION; GLYCEROPHOSPHOLIPIDS; HUMANS; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; PROTEIN FOLDING;

EID: 79551567002     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21405     Document Type: Article

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