Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 158

1.
2.

Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1.

Klose A, Ahmadian MR, Schuelke M, Scheffzek K, Hoffmeyer S, Gewies A, Schmitz F, Kaufmann D, Peters H, Wittinghofer A, Nürnberg P.

Hum Mol Genet. 1998 Aug;7(8):1261-8.

PMID:
9668168
3.

Neurofibromatosis type I tumor suppressor neurofibromin regulates neuronal differentiation via its GTPase-activating protein function toward Ras.

Yunoue S, Tokuo H, Fukunaga K, Feng L, Ozawa T, Nishi T, Kikuchi A, Hattori S, Kuratsu J, Saya H, Araki N.

J Biol Chem. 2003 Jul 18;278(29):26958-69. Epub 2003 May 2.

4.

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene.

Thomas L, Richards M, Mort M, Dunlop E, Cooper DN, Upadhyaya M.

Hum Mutat. 2012 Dec;33(12):1687-96. doi: 10.1002/humu.22162. Epub 2012 Aug 6.

PMID:
22807134
5.

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

Hirata Y, Brems H, Suzuki M, Kanamori M, Okada M, Morita R, Llano-Rivas I, Ose T, Messiaen L, Legius E, Yoshimura A.

J Biol Chem. 2016 Feb 12;291(7):3124-34. doi: 10.1074/jbc.M115.703710. Epub 2015 Dec 3.

7.

Low-concentration methylene blue maintains energy production and strongly improves survival of Leigh syndrome French Canadian skin fibroblasts.

Legault J, Larouche PL, Côté I, Bouchard L, Pichette A, Robinson BH, Morin C.

J Pharm Pharm Sci. 2011;14(3):438-49.

8.

Neurofibromin GTPase-activating protein-related domains restore normal growth in Nf1-/- cells.

Hiatt KK, Ingram DA, Zhang Y, Bollag G, Clapp DW.

J Biol Chem. 2001 Mar 9;276(10):7240-5. Epub 2000 Nov 15.

10.

Reconstitution of the NF1 GAP-related domain in NF1-deficient human Schwann cells.

Thomas SL, Deadwyler GD, Tang J, Stubbs EB Jr, Muir D, Hiatt KK, Clapp DW, De Vries GH.

Biochem Biophys Res Commun. 2006 Sep 29;348(3):971-80. Epub 2006 Aug 2.

PMID:
16908010
11.

Loss of neurofibromin is associated with activation of RAS/MAPK and PI3-K/AKT signaling in a neurofibromatosis 1 astrocytoma.

Lau N, Feldkamp MM, Roncari L, Loehr AH, Shannon P, Gutmann DH, Guha A.

J Neuropathol Exp Neurol. 2000 Sep;59(9):759-67.

PMID:
11005256
12.

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H, Legius E.

Keio J Med. 2013;62(4):107-12. Epub 2013 Dec 10. Review.

13.

Neurofibromatosis 1: closing the GAP between mice and men.

Dasgupta B, Gutmann DH.

Curr Opin Genet Dev. 2003 Feb;13(1):20-7. Review.

PMID:
12573431
14.

Neurofibromin-deficient Schwann cells have increased lysophosphatidic acid dependent survival and migration-implications for increased neurofibroma formation during pregnancy.

Nebesio TD, Ming W, Chen S, Clegg T, Yuan J, Yang Y, Estwick SA, Li Y, Li X, Hingtgen CM, Yang FC.

Glia. 2007 Apr 1;55(5):527-36.

PMID:
17236191
15.

Neurofibromatosis type 1 (NF1) tumor suppressor, neurofibromin, regulates the neuronal differentiation of PC12 cells via its associating protein, CRMP-2.

Patrakitkomjorn S, Kobayashi D, Morikawa T, Wilson MM, Tsubota N, Irie A, Ozawa T, Aoki M, Arimura N, Kaibuchi K, Saya H, Araki N.

J Biol Chem. 2008 Apr 4;283(14):9399-413. doi: 10.1074/jbc.M708206200. Epub 2008 Jan 23.

16.

Somatic mutations in the neurofibromatosis 1 gene in human tumors.

Li Y, Bollag G, Clark R, Stevens J, Conroy L, Fults D, Ward K, Friedman E, Samowitz W, Robertson M, et al.

Cell. 1992 Apr 17;69(2):275-81.

PMID:
1568247
17.

[Genetics of type 1 neurofibromatosis].

Garavelli L, Donadio A, Sigorini M, Grassi L, Banchini G.

Acta Biomed Ateneo Parmense. 2000;71(3-4):89-95. Italian.

PMID:
11424621
18.

Molecular targets for emerging anti-tumor therapies for neurofibromatosis type 1.

Dilworth JT, Kraniak JM, Wojtkowiak JW, Gibbs RA, Borch RF, Tainsky MA, Reiners JJ Jr, Mattingly RR.

Biochem Pharmacol. 2006 Nov 30;72(11):1485-92. Epub 2006 Apr 28. Review.

PMID:
16797490
19.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW.

Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27.

20.

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs.

Ruzzenente B, Metodiev MD, Wredenberg A, Bratic A, Park CB, Cámara Y, Milenkovic D, Zickermann V, Wibom R, Hultenby K, Erdjument-Bromage H, Tempst P, Brandt U, Stewart JB, Gustafsson CM, Larsson NG.

EMBO J. 2012 Jan 18;31(2):443-56. doi: 10.1038/emboj.2011.392. Epub 2011 Nov 1.

Supplemental Content

Support Center