Defects in PEX1, a peroxisome-associated ATPase that interacts with PEX5 and PEX6, disrupt peroxisomal matrix protein import and are the most common cause of the peroxisome biogenesis disorders.

被引：0

作者：

Reuber, BE

GermainLee, E

Morrell, JC

Geisbrecht, B

Collins, C

Ameritunga, R

Moser, HW

Valle, D

Gould, SJ

机构：

[1] JOHNS HOPKINS UNIV,SCH MED,DEPT BIOL CHEM,BALTIMORE,MD 21205

[2] JOHNS HOPKINS UNIV,SCH MED,HOWARD HUGHES MED INST,DEPT PEDIAT,BALTIMORE,MD 21205

[3] JOHNS HOPKINS UNIV,SCH MED,PREDOCTORAL TRAINING PROGRAM HUMAN GENET,BALTIMORE,MD 21205

[4] JOHNS HOPKINS UNIV,SCH MED,KENNEDY KRIEGER INST,BALTIMORE,MD 21205

[5] JOHNS HOPKINS UNIV,SCH MED,DEPT NEUROL,BALTIMORE,MD 21205

[6] JOHNS HOPKINS UNIV,SCH MED,DEPT MOL BIOL & GENET,BALTIMORE,MD 21205

来源：

MOLECULAR BIOLOGY OF THE CELL | 1997年 / 8卷

关键词：

D O I：

暂无

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

引用

页码：668 / 668

页数：1

共 27 条

[1] Defects in PEX1, a peroxisome-associated ATPase that interacts with PEX6, are the most common cause of Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease.
Germain-Lee, E
Morrell, JC
Geisbrecht, B
Collins, C
Ameritunga, R
Moser, HW
Valle, D
Gould, SJ
AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A54 - A54
[2] Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
Reuber, BE
GermainLee, E
Collins, CS
Morrell, JC
Ameritunga, R
Moser, HW
Valle, D
Gould, SJ
NATURE GENETICS, 1997, 17 (04) : 445 - 448
[3] Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
Bernadette E. Reuber
Emily Germain-Lee
Cynthia S. Collins
James C. Morrell
Rohan Ameritunga
Hugo W. Moser
David Valle
Stephen J. Gould
Nature Genetics, 1997, 17 : 445 - 448
[4] Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol
Pedrosa, Ana G.
Francisco, Tania
Bicho, Diana
Dias, Ana F.
Barros-Barbosa, Aurora
Hagmann, Vera
Dodt, Gabriele
Rodrigues, Tony A.
Azevedo, Jorge E.
JOURNAL OF BIOLOGICAL CHEMISTRY, 2018, 293 (29) : 11553 - 11563
[5] The PEX1 ATPase Stabilizes PEX6 and Plays Essential Roles in Peroxisome Biology
Rinaldi, Mauro A.
Fleming, Wendell A.
Gonzalez, Kim L.
Park, Jaeseok
Ventura, Meredith J.
Patel, Ashish B.
Bartel, Bonnie
PLANT PHYSIOLOGY, 2017, 174 (04) : 2231 - 2247
[6] PEX12 interacts with PEX10 and PEX5 in peroxisomal matrix protein import
Chang, CC
Warren, D
Sacksteder, K
Gould, SJ
MOLECULAR BIOLOGY OF THE CELL, 1999, 10 : 109A - 109A
[7] Insights into the Structure and Function of the Pex1/Pex6 AAA-ATPase in Peroxisome Homeostasis
Judy, Ryan M.
Sheedy, Connor J.
Gardner, Brooke M.
CELLS, 2022, 11 (13)
[8] Disorders of peroxisome biogenesis due to mutations in PEX1:: Phenotypes and PEX1 protein levels
Walter, C
Gootjes, J
Mooijer, PA
Portsteffen, H
Klein, C
Waterham, HR
Barth, PG
Epplen, JT
Kunau, WH
Wanders, RJA
Dodt, G
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) : 35 - 48
[9] A pex1 missense mutation improves peroxisome function in a subset of Arabidopsis pex6 mutants without restoring PEX5 recycling
Gonzalez, Kim L.
Ratzel, Sarah E.
Burks, Kendall H.
Danan, Charles H.
Wages, Jeanne M.
Zolman, Bethany K.
Bartel, Bonnie
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2018, 115 (14) : E3163 - E3172
[10] Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Ratbi, Ilham
Falkenberg, Kim D.
Sommen, Manou
Al-Sheqaih, Nada
Guaoua, Soukaina
Vandeweyer, Geert
Urquhart, Jill E.
Chandler, Kate E.
Williams, Simon G.
Roberts, Neil A.
El Alloussi, Mustapha
Black, Graeme C.
Ferdinandusse, Sacha
Ramdi, Hind
Heimler, Audrey
Fryer, Alan
Lynch, Sally-Ann
Cooper, Nicola
Ong, Kai Ren
Smith, Claire E. L.
Inglehearn, Christopher F.
Mighell, Alan J.
Ecock, Claire
Poulter, James A.
Tischkowitz, Marc
Davies, Sally J.
Sefiani, Abdelaziz
Mironov, Aleksandr A.
Newman, William G.
Waterham, Hans R.
Van Camp, Guy
AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 97 (04) : 535 - 545

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