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Síndromes rígido-acinéticos » Enfermedad de Parkinson » Genética » Parkinsonismo autosómico recesivo

Síndromes rígido-acinéticos » Enfermedad de Parkinson » Genética » Parkinsonismo autosómico recesivo Parkinsonismo autosómico recesivo PRKN: PARK2 cDNA Proteína Bibliografía c.125G > C p.R42P Terreni L, 2001 c.245C > A p.A82E Hedrich K, 2001 c.167T > A p.V56G*m Hoenicka J, 2002 c.483A > T p.K161N Abbas N, 1999 c.633A > T p.K211N Lucking CH, 2000 c.635G > A p.C212Y Pineda-Trujillo N, 2001 c.714C > G p.C238W* Sironi F, 2008 c.719C > G p.T240R* Hattori N, 1998 c.719C > T p.T240M* Foroud T, 2003; Sun M, 2006 c.758G > A p.C253Y Oliveira SA, 2003; Guo JF, 2008 c.766C > T p.R256C Abbas N, 1999; Hedrich K, 2002 c.823C > T p.R275W Abbas N, 1999 c.850G > C p.G284R* Wu RM, 2005 c.865T > G p.C289G Lucking CH, 2000 c.983G > A p.G328E Lucking CH, 2000 c.1000C > T p.R334C Lucking CH, 2000 c.1244C > A p.T415N Abbas N, 1999 c.1252T > C p.C418R* Bertoli-Avela AM, 2005 c.1289G > A p.G430D Lucking CH, 2000 c.1292G > T p.C431F Maruyama M, 2000 c.1310C > T p.P437L*m Nichols WC, 2002 c.1321T > C p.C441R Guo JF, 2008 PINK1: PARK6 cDNA Proteína Bibliografía c.275G > T p.C92Fa Valente EM, 2004 c.373T > G p.C125G* Ibañez P, 2006 c.377A > C p.Q126P Prestel J, 2008 c.502G > C p.A168P Valente EM, 2004 c.650C > A p.A217D Leutenegger AL, 2006 c.718G > A p.E240Kb Rogaeva E, 2006 c.813C > A p.H271Q Hatano Y, 2004 c.926G > A P.G309D Valente EM, 2004 c.938C > T p.T313M Zhang YH, 2005 c.1040T > C p.L347P Rogaeva E, Hatano Y, 2004 c.1106T > C p.L369P* Ibañez P, 2006 c.1195C > G p.N367S* Choi JM, 2008 c.1157G > C p.G386A Ibañez P, 2006 c.1162T > C p.C388R Li Y, 2005 c.1226G > T p.G409V Ibañez P, 2006 c.1247C > G p.P416R Myhre R, 2008 c.1250A > G p.E417G Hatano Y, 2004 c.1255T > C p.S419P Myhre R, 2008 c.1309T > C p.W437R Kumazawa R, 2008 c.1319G > A p.G440E Ishihara-Paul L, 2008 c.1391G > A p.R464Ha Valente EM, 2004 c.1466T > C p.L489Pb Rogaeva E, 2006 DJ-1: PARK 7 cDNA Proteína Bibliografía c.29T > C p.L10P Guo JF, 2008 c.78G > A p.M26I Abou-Sleiman P, 2003 c.192G > C p.E64D Hering R, 2004 c.497T > C p.L166P Bonifati V, 2003 ATP13A2: PARK9 cDNA Proteína Bibliografía c.546C > A p.F182L Ning YP, 2008 c.1510G > C p.G504R Di Fonzo A, 2007 PLA2G6: PARK14 cDNA Proteína Bibliografía c.1715C > T p.T572I Unpublished data c.1894C > T p.R632W Sina F, 2008 c.2222G > A p.R741Q Paisán-Ruiz C, 2009 c.2239C > T p.R747W Paisán-Ruiz C, 2009 FBXO7: PARK15 cDNA Proteína Bibliografía c.65C > T p.T22M* Di Fonzo A, 2009 c.1132C > G p.R378G Shojaee S, 2008 Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C. The genetics of Parkinson’s syndromes: a critical review. Current Opinion in Genetics & Development 2009, 19:254–65.

PRKN: PARK2

cDNA Proteína Bibliografía

c.125G > C p.R42P Terreni L, 2001

c.245C > A p.A82E Hedrich K, 2001

c.167T > A p.V56G*m Hoenicka J, 2002

c.483A > T p.K161N Abbas N, 1999

c.633A > T p.K211N Lucking CH, 2000

c.635G > A p.C212Y Pineda-Trujillo N, 2001

c.714C > G p.C238W* Sironi F, 2008

c.719C > G p.T240R* Hattori N, 1998

c.719C > T p.T240M* Foroud T, 2003; Sun M, 2006

c.758G > A p.C253Y Oliveira SA, 2003; Guo JF, 2008

c.766C > T p.R256C Abbas N, 1999; Hedrich K, 2002

c.823C > T p.R275W Abbas N, 1999

c.850G > C p.G284R* Wu RM, 2005

c.865T > G p.C289G Lucking CH, 2000

c.983G > A p.G328E Lucking CH, 2000

c.1000C > T p.R334C Lucking CH, 2000

c.1244C > A p.T415N Abbas N, 1999

c.1252T > C p.C418R* Bertoli-Avela AM, 2005

c.1289G > A p.G430D Lucking CH, 2000

c.1292G > T p.C431F Maruyama M, 2000

c.1310C > T p.P437L*m Nichols WC, 2002

c.1321T > C p.C441R Guo JF, 2008

PINK1: PARK6

cDNA Proteína Bibliografía

c.275G > T p.C92Fa Valente EM, 2004

c.373T > G p.C125G* Ibañez P, 2006

c.377A > C p.Q126P Prestel J, 2008

c.502G > C p.A168P Valente EM, 2004

c.650C > A p.A217D Leutenegger AL, 2006

c.718G > A p.E240Kb Rogaeva E, 2006

c.813C > A p.H271Q Hatano Y, 2004

c.926G > A P.G309D Valente EM, 2004

c.938C > T p.T313M Zhang YH, 2005

c.1040T > C p.L347P Rogaeva E, Hatano Y, 2004

c.1106T > C p.L369P* Ibañez P, 2006

c.1195C > G p.N367S* Choi JM, 2008

c.1157G > C p.G386A Ibañez P, 2006

c.1162T > C p.C388R Li Y, 2005

c.1226G > T p.G409V Ibañez P, 2006

c.1247C > G p.P416R Myhre R, 2008

c.1250A > G p.E417G Hatano Y, 2004

c.1255T > C p.S419P Myhre R, 2008

c.1309T > C p.W437R Kumazawa R, 2008

c.1319G > A p.G440E Ishihara-Paul L, 2008

c.1391G > A p.R464Ha Valente EM, 2004

c.1466T > C p.L489Pb Rogaeva E, 2006

DJ-1: PARK 7

cDNA Proteína Bibliografía

c.29T > C p.L10P Guo JF, 2008

c.78G > A p.M26I Abou-Sleiman P, 2003

c.192G > C p.E64D Hering R, 2004

c.497T > C p.L166P Bonifati V, 2003

ATP13A2: PARK9

cDNA Proteína Bibliografía

c.546C > A p.F182L Ning YP, 2008

c.1510G > C p.G504R Di Fonzo A, 2007

PLA2G6: PARK14

cDNA Proteína Bibliografía

c.1715C > T p.T572I Unpublished data

c.1894C > T p.R632W Sina F, 2008

c.2222G > A p.R741Q Paisán-Ruiz C, 2009

c.2239C > T p.R747W Paisán-Ruiz C, 2009

FBXO7: PARK15

cDNA Proteína Bibliografía

c.65C > T p.T22M* Di Fonzo A, 2009

c.1132C > G p.R378G Shojaee S, 2008

Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C. The genetics of Parkinson’s syndromes: a critical review. Current Opinion in Genetics & Development 2009, 19:254–65.

Parkinsonismo autosómico recesivo

PRKN: PARK2
cDNA Proteína Bibliografía
c.125G > C p.R42P Terreni L, 2001
c.245C > A p.A82E Hedrich K, 2001
c.167T > A p.V56G*m Hoenicka J, 2002
c.483A > T p.K161N Abbas N, 1999
c.633A > T p.K211N Lucking CH, 2000
c.635G > A p.C212Y Pineda-Trujillo N, 2001
c.714C > G p.C238W* Sironi F, 2008
c.719C > G p.T240R* Hattori N, 1998
c.719C > T p.T240M* Foroud T, 2003; Sun M, 2006
c.758G > A p.C253Y Oliveira SA, 2003; Guo JF, 2008
c.766C > T p.R256C Abbas N, 1999; Hedrich K, 2002
c.823C > T p.R275W Abbas N, 1999
c.850G > C p.G284R* Wu RM, 2005
c.865T > G p.C289G Lucking CH, 2000
c.983G > A p.G328E Lucking CH, 2000
c.1000C > T p.R334C Lucking CH, 2000
c.1244C > A p.T415N Abbas N, 1999
c.1252T > C p.C418R* Bertoli-Avela AM, 2005
c.1289G > A p.G430D Lucking CH, 2000
c.1292G > T p.C431F Maruyama M, 2000
c.1310C > T p.P437L*m Nichols WC, 2002
c.1321T > C p.C441R Guo JF, 2008
PINK1: PARK6
cDNA Proteína Bibliografía
c.275G > T p.C92Fa Valente EM, 2004
c.373T > G p.C125G* Ibañez P, 2006
c.377A > C p.Q126P Prestel J, 2008
c.502G > C p.A168P Valente EM, 2004
c.650C > A p.A217D Leutenegger AL, 2006
c.718G > A p.E240Kb Rogaeva E, 2006
c.813C > A p.H271Q Hatano Y, 2004
c.926G > A P.G309D Valente EM, 2004
c.938C > T p.T313M Zhang YH, 2005
c.1040T > C p.L347P Rogaeva E, Hatano Y, 2004
c.1106T > C p.L369P* Ibañez P, 2006
c.1195C > G p.N367S* Choi JM, 2008
c.1157G > C p.G386A Ibañez P, 2006
c.1162T > C p.C388R Li Y, 2005
c.1226G > T p.G409V Ibañez P, 2006
c.1247C > G p.P416R Myhre R, 2008
c.1250A > G p.E417G Hatano Y, 2004
c.1255T > C p.S419P Myhre R, 2008
c.1309T > C p.W437R Kumazawa R, 2008
c.1319G > A p.G440E Ishihara-Paul L, 2008
c.1391G > A p.R464Ha Valente EM, 2004
c.1466T > C p.L489Pb Rogaeva E, 2006
DJ-1: PARK 7
cDNA Proteína Bibliografía
c.29T > C p.L10P Guo JF, 2008
c.78G > A p.M26I Abou-Sleiman P, 2003
c.192G > C p.E64D Hering R, 2004
c.497T > C p.L166P Bonifati V, 2003
ATP13A2: PARK9
cDNA Proteína Bibliografía
c.546C > A p.F182L Ning YP, 2008
c.1510G > C p.G504R Di Fonzo A, 2007
PLA2G6: PARK14
cDNA Proteína Bibliografía
c.1715C > T p.T572I Unpublished data
c.1894C > T p.R632W Sina F, 2008
c.2222G > A p.R741Q Paisán-Ruiz C, 2009
c.2239C > T p.R747W Paisán-Ruiz C, 2009
FBXO7: PARK15
cDNA Proteína Bibliografía
c.65C > T p.T22M* Di Fonzo A, 2009
c.1132C > G p.R378G Shojaee S, 2008
Hardy J, Lewis P, Revesz T, Lees A, Paisan-Ruiz C. The genetics of Parkinson’s syndromes: a critical review. Current Opinion in Genetics & Development 2009, 19:254–65.

cDNA

Proteína

Bibliografía

c.125G > C

p.R42P

Terreni L, 2001

c.245C > A

p.A82E

Hedrich K, 2001

c.167T > A

p.V56G*m

Hoenicka J, 2002

c.483A > T

p.K161N

Abbas N, 1999

c.633A > T

p.K211N

Lucking CH, 2000

c.635G > A

p.C212Y

Pineda-Trujillo N, 2001

c.714C > G

p.C238W*

Sironi F, 2008

c.719C > G

p.T240R*

Hattori N, 1998

c.719C > T

p.T240M*

Foroud T, 2003; Sun M, 2006

c.758G > A

p.C253Y

Oliveira SA, 2003; Guo JF, 2008

c.766C > T

p.R256C

Abbas N, 1999; Hedrich K, 2002

c.823C > T

p.R275W

Abbas N, 1999

c.850G > C

p.G284R*

Wu RM, 2005

c.865T > G

p.C289G

Lucking CH, 2000

c.983G > A

p.G328E

Lucking CH, 2000

c.1000C > T

p.R334C

Lucking CH, 2000

c.1244C > A

p.T415N

Abbas N, 1999

c.1252T > C

p.C418R*

Bertoli-Avela AM, 2005

c.1289G > A

p.G430D

Lucking CH, 2000

c.1292G > T

p.C431F

Maruyama M, 2000

c.1310C > T

p.P437L*m

Nichols WC, 2002

c.1321T > C

p.C441R

Guo JF, 2008

cDNA

Proteína

Bibliografía

c.275G > T

p.C92Fa

Valente EM, 2004

c.373T > G

p.C125G*

Ibañez P, 2006

c.377A > C

p.Q126P

Prestel J, 2008

c.502G > C

p.A168P

Valente EM, 2004

c.650C > A

p.A217D

Leutenegger AL, 2006

c.718G > A

p.E240Kb

Rogaeva E, 2006

c.813C > A

p.H271Q

Hatano Y, 2004

c.926G > A

P.G309D

Valente EM, 2004

c.938C > T

p.T313M

Zhang YH, 2005

c.1040T > C

p.L347P

Rogaeva E, Hatano Y, 2004

c.1106T > C

p.L369P*

Ibañez P, 2006

c.1195C > G

p.N367S*

Choi JM, 2008

c.1157G > C

p.G386A

Ibañez P, 2006

c.1162T > C

p.C388R

Li Y, 2005

c.1226G > T

p.G409V

Ibañez P, 2006

c.1247C > G

p.P416R

Myhre R, 2008

c.1250A > G

p.E417G

Hatano Y, 2004

c.1255T > C

p.S419P

Myhre R, 2008

c.1309T > C

p.W437R

Kumazawa R, 2008

c.1319G > A

p.G440E

Ishihara-Paul L, 2008

c.1391G > A

p.R464Ha

Valente EM, 2004

c.1466T > C

p.L489Pb

Rogaeva E, 2006

cDNA

Proteína

Bibliografía

c.29T > C

p.L10P

Guo JF, 2008

c.78G > A

p.M26I

Abou-Sleiman P, 2003

c.192G > C

p.E64D

Hering R, 2004

c.497T > C

p.L166P

Bonifati V, 2003

cDNA

Proteína

Bibliografía

c.546C > A

p.F182L

Ning YP, 2008

c.1510G > C

p.G504R

Di Fonzo A, 2007

cDNA

Proteína

Bibliografía

c.1715C > T

p.T572I

Unpublished data

c.1894C > T

p.R632W

Sina F, 2008

c.2222G > A

p.R741Q

Paisán-Ruiz C, 2009

c.2239C > T

p.R747W

Paisán-Ruiz C, 2009

cDNA

Proteína

Bibliografía

c.65C > T

p.T22M*

Di Fonzo A, 2009

c.1132C > G

p.R378G

Shojaee S, 2008