Gene: [20p1/PRNP] prion protein (p27-30); Gerstmann-Straussler-Scheinker syndrome (GSD; MIM:137440); Creutzfeld-Jakob disease (CJD; MIM:123400); fatal familial insomnia (MIM:600072); scrapie (bovine spongiform encephalopathy; MIM:245300); [PRIP p27-30 ]
REF | PAT,MOL,EVO,MAM "Basler K &: Cell, 46, (1 Aug), 417-428,
1986 PEP,STR,FUN,MEB "Bendheim &: Nature, 310, (2 Aug), 418-421, 1984 MUT "Bertoni JM &: JAMA, 268, 2413-2415, 1992 PEP,STR,FUN,MEB "Bolton &: Biochemistry, 23, 5898-5906, 1984 MUT "Bosque PJ &: Neurology, 42, 1864-1870, 1992 MUT "Brown P &: Ann Neurol, 31, 282-285, 1992a MUT "Brown P &: J Neurol Sci, 112, 65-67, 1992b MUT "Brown P &: Neurology, 42, 422-427, 1992c PAT,MOL,POG,FOG "Brown P &: Neurology, 41, 375-379, 1991 REV,FUN,STR,PAT "Brunori &: Trends Biochem Sci, 13, (Aug), 309-313, 1988 MUT "Campbell TA &: Neurology, 46, 761-766, 1996 REV,PAT,FOG,MUT,ASS "Carlson GA &: Trends Genet, 7, 61-65, 1991 MUT "Collinge J &: Nature, 383, 685-690, 1996 REV,FUN,STR,PAT "Diener TO: Cell, 49, (19 Jun), 719-721, 1987 LIN "Dlouhy SR &: Nature Genet, 1, 64-67, 1992 PAT,MUT,ASS "Doh-ura K &: BBRC, 163, 974-979, 1989 PEP,STR,FUN,MEB "Gabison &: PNAS, 85, N18, 6617-6621, 1988 MUT,POL "Gabizon R &: AJHG, 53, 828-835, 1993 MUT "Goldfarb LG &: Mol Neurobiol, 8, 89-97, 1994 PAT,MUT,ASS "Golgaber, Golfarb: Exp Neurol, 106, 204-206, 1989 POL "Harris MS &: NAR, 18, 385, 1990 FUN "Horwich AL, Weissman JS: Cell, 89, 499-510, 1997 MUT,ASS,PAT,LIN "Hsiao K &: Nature, 338, 342-345, 1989 PAT,MOL,EVO,MAM "Karlson &: Cell, 46, (15 Aug), 503-511, 1986 MUT "Kitamoto T &: BBRC, 191, 709-714, 1993 MUT "Krasemann S &: Mol Brain Res, 34, 173-176, 1995 MUT "Kretzschmar HA &: Acta Neuropathol, 89, 96-98, 1995 CLO,SEQ,EXP "Kretzschmar HA &: DNA, 5, 315-324, 1986 CLO,SEQ,EXP,LOC "Liao YC &: Science, 233, 364-367, 1986 PAT,MOL,EVO,MAM "Locht C &: PNAS, 83, N15, 6372-6376, 1986 MUT,POL "Medori R, Tritschler H-J: AJHG, 53, 822-827, 1993 PEP,STR,FUN,MEB "Meyer &: PNAS, 83, N8, 2310-2314, 1986 POL "Owen F &: NAR, 18, 3103, 1990 MUT,POL "Palmer MS, Collinge J: Hum Mut, 2, 168-173, 1993 CLO,SEQ,MUT "Perry RT &: Am J Med Genet, 60, 12-18, 1995 MUT "Pocchiari M &: Ann Neurol, 34, 802-807, 1993 REV,FUN,STR,PAT "Prusiner SB &: Acta Neuropathol, 72, 299-314, 1987a REV,FUN,STR,PAT "Prusiner SB: Annu Rev Med, 38, 381-398, 1987b PEP,STR,FUN,MEB "Prusiner SB &: Cell, 38, (Aug), 127-134, 1984a REV,FUN,STR,PAT "Prusiner SB: Scientific Am, 251, N4, 50-59, 1984b GEN,STR "Puckett C &: AJHG, 49, 320-329, 1991 FOG "Reder AT &: Neurology, 45, 1068-1075, 1995 MUT,CYG,PAT "Rivera &: J Med Genet, 26, 626-630, 1989 LOC,MOL,EXP "Robakis NK &: BBRC, 140, 758-765, 1986a PAT,MOL,EVO,MAM "Robakis NK &: PNAS, 83, N15, 6377-6381, 1986b MUT "Schellenberg GD &: AJHG, 49, 511-517, 1991 LOC,EAG,HUM,MOU "Sparkes RS &: PNAS, 83, N19, 7358-7362, 1986 LOC,LIN,PAT "Speer MC &: Genomics, 9, N2, 366-368, 1991 MUT "Tagliavini F &: Cell, 79, 695-703, 1994 PAT,MUT,ASS "Tagliavini F &: EMBO J, 10, 513-519, 1991 PAT "Tateishi J &: Nature, 376, 434-435, 1995 PAT,MOL,EVO,MAM "Westaway D &: Cell, 51, (20 Nov), 651-662, 1987 PEP,STR,FUN,MEB "Wietgrefe S &: Science, 230, N4730, 1177-1179, 1985 POL "Wu Y &: NAR, 15, N7, 3191, 1987 MUT,POL "Yamada M &: Neurology, 43, 2723-2724, 1993 |
SWI | SWISSPROT: P04156 |
KEY | neu |
CLA | coding, basic |
LOC | 20 pt-12 |
MIM | MIM: 176640 |
SYN | PRIP p27-30 |