Síndromes rígido-acinéticos » Enfermedad de Parkinson » Genética » Variantes de enfermedad de Parkinson autosómica dominante

Síndromes rígido-acinéticos » Enfermedad de Parkinson » Genética » Variantes de enfermedad de Parkinson autosómica dominante Variantes de enfermedad de Parkinson autosómica dominante SNCA: PARK1/4 cDNA Proteína Bibliografía c.88G>C p.A30P Kruger A, 1998 c.188G>A p.E46K Zarranz JJ, 2004 c.209G>A p.A53T Polymeropoulos MH, 1996 SNCA_triplication NA Singleton AB, 2003 SNCA_duplication NA Chartier-Harlin MC, 2004 LRRK2: PARK8 cDNA Proteína Bibliografía c.4111A>G p.I1371V Paisán-Ruiz C, 2005 c.4321C>G p.R1441G Paisán-Ruiz C, 2004 c.4321C>T p.R1441C Zimprich A, 2004 c.4322G>A p.R1441H Zabetian CP, 2005 c.4883G>C p.R1628PRFs Ross OA, 2008 c.5096A>G p.Y1699C Paisán-Ruiz C, 2004 c.6035T>C p.I2012T Tomiyama H, 2006 c.6055G>A p.G2019S Nichols WC, 2005 c.6059T>C p.I2020T Zimprich A, 2004 c.7068C>T p.T2356I Khan NL, 2005 c.7153G>A p.G2385RRF Mata IF, 2005, Di Fonzo A, 2006 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. Desarrollado por: Adalia

SNCA: PARK1/4

cDNA Proteína Bibliografía

c.88G>C p.A30P Kruger A, 1998

c.188G>A p.E46K Zarranz JJ, 2004

c.209G>A p.A53T Polymeropoulos MH, 1996

SNCA_triplication NA Singleton AB, 2003

SNCA_duplication NA Chartier-Harlin MC, 2004

LRRK2: PARK8

cDNA Proteína Bibliografía

c.4111A>G p.I1371V Paisán-Ruiz C, 2005

c.4321C>G p.R1441G Paisán-Ruiz C, 2004

c.4321C>T p.R1441C Zimprich A, 2004

c.4322G>A p.R1441H Zabetian CP, 2005

c.4883G>C p.R1628PRFs Ross OA, 2008

c.5096A>G p.Y1699C Paisán-Ruiz C, 2004

c.6035T>C p.I2012T Tomiyama H, 2006

c.6055G>A p.G2019S Nichols WC, 2005

c.6059T>C p.I2020T Zimprich A, 2004

c.7068C>T p.T2356I Khan NL, 2005

c.7153G>A p.G2385RRF Mata IF, 2005, Di Fonzo A, 2006

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.

Desarrollado por: Adalia

Variantes de enfermedad de Parkinson autosómica dominante

SNCA: PARK1/4
cDNA	Proteína	Bibliografía
c.88G>C	p.A30P	Kruger A, 1998
c.188G>A	p.E46K	Zarranz JJ, 2004
c.209G>A	p.A53T	Polymeropoulos MH, 1996
SNCA_triplication	NA	Singleton AB, 2003
SNCA_duplication	NA	Chartier-Harlin MC, 2004
LRRK2: PARK8
cDNA	Proteína	Bibliografía
c.4111A>G	p.I1371V	Paisán-Ruiz C, 2005
c.4321C>G	p.R1441G	Paisán-Ruiz C, 2004
c.4321C>T	p.R1441C	Zimprich A, 2004
c.4322G>A	p.R1441H	Zabetian CP, 2005
c.4883G>C	p.R1628PRFs	Ross OA, 2008
c.5096A>G	p.Y1699C	Paisán-Ruiz C, 2004
c.6035T>C	p.I2012T	Tomiyama H, 2006
c.6055G>A	p.G2019S	Nichols WC, 2005
c.6059T>C	p.I2020T	Zimprich A, 2004
c.7068C>T	p.T2356I	Khan NL, 2005
c.7153G>A	p.G2385RRF	Mata IF, 2005, Di Fonzo A, 2006
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.88G>C

p.A30P

Kruger A, 1998

c.188G>A

p.E46K

Zarranz JJ, 2004

c.209G>A

p.A53T

Polymeropoulos MH, 1996

SNCA_triplication

NA

Singleton AB, 2003

SNCA_duplication

NA

Chartier-Harlin MC, 2004

cDNA

Proteína

Bibliografía

c.4111A>G

p.I1371V

Paisán-Ruiz C, 2005

c.4321C>G

p.R1441G

Paisán-Ruiz C, 2004

c.4321C>T

p.R1441C

Zimprich A, 2004

c.4322G>A

p.R1441H

Zabetian CP, 2005

c.4883G>C

p.R1628PRFs

Ross OA, 2008

c.5096A>G

p.Y1699C

Paisán-Ruiz C, 2004

c.6035T>C

p.I2012T

Tomiyama H, 2006

c.6055G>A

p.G2019S

Nichols WC, 2005

c.6059T>C

p.I2020T

Zimprich A, 2004

c.7068C>T

p.T2356I

Khan NL, 2005

c.7153G>A

p.G2385RRF

Mata IF, 2005, Di Fonzo A, 2006

Desarrollado por: Adalia