Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway (vol 111, pg 236, 2014)

被引：0

作者：

Enns, Gregory M. ^{[1
]}

Shashi, Vandana ^{[1
]}

Bainbridge, Matthew ^{[1
]}

Gambello, Michael J. ^{[1
]}

Zahir, Farah R. ^{[1
]}

Bast, Thomas ^{[1
]}

Crimian, Rebecca ^{[1
]}

Schoch, Kelly ^{[1
]}

Platt, Julia ^{[1
]}

Cox, Rachel ^{[1
]}

Bernstein, Jonathan A. ^{[1
]}

Scavina, Mena ^{[1
]}

Walter, Rhonda S. ^{[1
]}

Bibb, Audrey ^{[1
]}

Jones, Melanie ^{[1
]}

Hegde, Madhuri ^{[1
]}

Graham, Brett H. ^{[1
]}

Need, Anna C. ^{[1
]}

Oviedo, Angelica ^{[1
]}

Schaaf, Christian P. ^{[1
]}

Boyle, Sean ^{[1
]}

Butte, Atul J. ^{[1
]}

Chen, Rui ^{[1
]}

Chen, Rong ^{[1
]}

Clark, Michael J. ^{[1
]}

Haraksingh, Rajini ^{[1
]}

Cowan, Tina M. ^{[1
]}

He, Ping ^{[1
]}

Langlois, Sylvie ^{[1
]}

Zoghbi, Huda Y. ^{[1
]}

Snyder, Michael ^{[1
]}

Gibbs, Richard A. ^{[1
]}

Freeze, Hudson H. ^{[1
]}

Goldstein, David B. ^{[1
]}

Chen, Rui ^{[1
]}

机构：

[1] Stanford Univ, Sch Med, Dept Genet, Snyder Lab, Stanford, CA 94305 USA

来源：

GENETICS IN MEDICINE | 2014年 / 16卷 / 07期

关键词：

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：568 / 568

页数：1

共 25 条

[1] Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
Enns, Gregory M.
Shashi, Vandana
Bainbridge, Matthew
Gambello, Michael J.
Zahir, Farah R.
Bast, Thomas
Crimian, Rebecca
Schoch, Kelly
Platt, Julia
Cox, Rachel
Bernstein, Jonathan A.
Scavina, Mena
Walter, Rhonda S.
Bibb, Audrey
Jones, Melanie
Hegde, Madhuri
Graham, Brett H.
Need, Anna C.
Oviedo, Angelica
Schaaf, Christian P.
Boyle, Sean
Butte, Atul J.
Chen, Rong
Clark, Michael J.
Haraksingh, Rajini
Cowan, Tina M.
He, Ping
Langlois, Svlvie
Zoghbi, Huda Y.
Snyder, Michael
Gibbs, Richard A.
Freeze, Hudson H.
Goldstein, David B.
[J]. GENETICS IN MEDICINE, 2014, 16 (10) : 751 - 758
[2] MUTATIONS IN NGLY1 CAUSE AN INHERITED DISORDER OF THE ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION (ERAD) PATHWAY
Enns, Gregory M.
Shashi, Vandana
Zahir, Farah
Gambello, Michael J.
Bainbridge, Matthew N.
Bast, Thomas
Crimian, Rebecca
Schoch, Kelly
Zoghbi, Huda Y.
Platt, Julia
Cox, Rachel
Bernstein, Jonathan
Scavina, Mena
Walter, Rhonda S.
Need, Anna C.
Oviedo, Angelica
Langlois, Sylvie
Bibb, Audrey
Jones, Melanie
Hedge, Madhuri
Gibbs, Richard A.
Schaaf, Christian P.
Boyle, Sean
Butte, Atul J.
Clark, Michael
Cowan, Tina
He, Ping
Snyder, Michael
Freeze, Hudson H.
Goldstein, David B.
[J]. MOLECULAR GENETICS AND METABOLISM, 2014, 111 (03) : 236 - 237
[3] Sel1L is indispensable for mammalian endoplasmic reticulum-associated degradation, endoplasmic reticulum homeostasis, and survival (vol 111, pg E582, 2014)
Sun, Shengyi
Shi, Guojun
Han, Xuemei
Francisco, Adam B.
Ji, Yewei
Mendonca, Nuno
Liu, Xiaojing
Locasale, Jason W.
Simpson, Kenneth W.
Duhamel, Gerald E.
Kersten, Sander
Yates, John R., III
Long, Qiaoming
Qi, Ling
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2014, 111 (16) : 6115 - 6115
[4] Ubiquitin ligase Kf-1 is involved in the endoplasmic reticulum-associated degradation pathway
Maruyama, Yoshiaki
Yamada, Misa
Takahashi, Kou
Yamada, Mitsuhiko
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2008, 374 (04) : 737 - 741
[5] ERManI (Endoplasmic Reticulum Class I α-Mannosidase) Is Required for HIV-1 Envelope Glycoprotein Degradation via Endoplasmic Reticulum-associated Protein Degradation Pathway
Zhou, Tao
Frabutt, Dylan A.
Moremen, Kelley W.
Zheng, Yong-Hui
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2015, 290 (36) : 22184 - 22192
[6] Transfer of the cholera toxin A1 polypeptide from the endoplasmic reticulum to the cytosol is a rapid process facilitated by the endoplasmic reticulum-associated degradation pathway
Teter, K
Allyn, RL
Jobling, MG
Holmes, RK
[J]. INFECTION AND IMMUNITY, 2002, 70 (11) : 6166 - 6171
[7] Mutations of an α1,6 Mannosyltransferase Inhibit Endoplasmic Reticulum-Associated Degradation of Defective Brassinosteroid Receptors in Arabidopsis
Hong, Zhi
Jin, Hua
Fitchette, Anne-Catherine
Xia, Yang
Monk, Andrew M.
Faye, Loic
Li, Jianming
[J]. PLANT CELL, 2009, 21 (12): : 3792 - 3802
[8] A Shared Endoplasmic Reticulum-associated Degradation Pathway Involving the EDEM1 Protein for Glycosylated and Nonglycosylated Proteins
Shenkman, Marina
Groisman, Bella
Ron, Efrat
Avezov, Edward
Hendershot, Linda M.
Lederkremer, Gerardo Z.
[J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2013, 288 (04) : 2167 - 2178
[9] Ubiquitin-proteasome system mediates heme oxygenase-1 degradation through endoplasmic reticulum-associated degradation pathway
Lin, Pu-Hua
Chiang, Ming-Tsai
Chau, Lee-Young
[J]. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, 2008, 1783 (10): : 1826 - 1834
[10] Overexpression of Man2C1 leads to protein underglycosylation and upregulation of endoplasmic reticulum-associated degradation pathway
Bernon, Coralie
Carre, Yoann
Kuokkanen, Elina
Slomianny, Marie-Christine
Mir, Anne-Marie
Krzewinski, Frederic
Cacan, Rene
Heikinheimo, Pirkko
Morelle, Willy
Michalski, Jean-Claude
Foulquier, Francois
Duvet, Sandrine
[J]. GLYCOBIOLOGY, 2011, 21 (03) : 363 - 375

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