Role of Ocrl1 in Primary Cilia Assembly

被引：10

作者：

Madhivanan, Kayalvizhi ^{[1
]}

Ramadesikan, Swetha ^{[1
]}

Aguilar, R. Claudio ^{[1
]}

机构：

[1] Purdue Univ, Dept Biol Sci, W Lafayette, IN 47907 USA

来源：

INTERNATIONAL REVIEW OF CELL AND MOLECULAR BIOLOGY, VOL 317 | 2015年 / 317卷

关键词：

SYNDROME PROTEIN OCRL1; INOSITOL POLYPHOSPHATE 5-PHOSPHATASE; LOWE-SYNDROME; MEMBRANE RUFFLES; BINDING; INPP5B; ACTIN; TRAFFICKING; MUTATIONS; DOMAIN;

D O I：

10.1016/bs.ircmb.2015.02.003

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Lowe syndrome is a lethal X-linked genetic disorder characterized by congenital cataracts, mental retardation, and kidney dysfunction. It is caused by mutations in the OCRL1 (oculocerebrorenal syndrome of Lowe) gene that encodes a phosphatidylinositol 5-phosphatase (EC 3.1.3.36). The gene product OcrI1 has been linked to a multitude of functions due to the central role played by phosphoinositides in signaling. Moreover, this protein also has the ability to bind Rho GTPases, the master regulators of the actin cytoskeleton, and to interact with elements of the vesicle trafficking machinery. It is currently under investigation how deficiencies in OcrI1 affect these different processes and contribute to patient symptoms. This chapter outlines the known physiological roles of OcrI1 which might be relevant to the mechanism underlying Lowe syndrome.

引用

页码：331 / 347

页数：17

共 50 条

[1] The Lowe syndrome protein OCRL1 is involved in primary cilia assembly
Coon, Brian G.
Hernandez, Victor
Madhivanan, Kayalvizhi
Mukherjee, Debarati
Hanna, Claudia B.
Ramirez, Irene Barinaga-Rementeria
Lowe, Martin
Beales, Philip L.
Aguilar, R. Claudio
HUMAN MOLECULAR GENETICS, 2012, 21 (08) : 1835 - 1847
[2] The Oculo-Cerebro-Renal Syndrome of Lowe as a Ciliopathy: Role of Ocrl1 in Primary Cilia Assembly
Coon, B. G.
Madhivanan, K.
Hernandez, V.
Mukherjee, D.
Hanna, C. B.
Lowe, M.
Beales, P.
Aguilar, C.
MOLECULAR BIOLOGY OF THE CELL, 2011, 22
[3] The Oculo-Cerebro-Renal Syndrome of Lowe as a Ciliopathy: Role of Ocrl1 in Primary Cilia Assembly.
Coon, B. G.
Madhivanan, K.
Hernandez, V.
Mukherjee, D.
Hanna, C. B.
Lowe, M.
Beales, P.
Aguilar, C.
MOLECULAR BIOLOGY OF THE CELL, 2011, 22
[4] Role of Ocrl1 and Inpp5E in primary cilia assembly and maintenance: a phosphatidylinositol phosphatase relay system?
Madhivanan, Kayalvizhi
Ramadesikan, Swetha
Aguilar, R. Claudio
RESEARCH AND REPORTS IN BIOLOGY, 2016, 7 : 15 - 29
[5] OCRL1 Modulates Cilia Length in Renal Epithelial Cells
Rbaibi, Youssef
Cui, Shanshan
Mo, Di
Carattino, Marcelo
Rohatgi, Rajeev
Satlin, Lisa M.
Szalinski, Christina M.
Swanhart, Lisa M.
Foelsch, Heike
Hukriede, Neil A.
Weisz, Ora A.
TRAFFIC, 2012, 13 (09) : 1295 - 1305
[6] Dent disease with mutations in OCRL1
Hoopes, RR
Shrimpton, AE
Knohl, SJ
Hueber, P
Hoppe, B
Matyus, J
Simckes, A
Tasic, V
Toenshoff, B
Suchy, SF
Nussbaum, RL
Scheinman, SJ
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (02) : 260 - 267
[7] Novel Mutation of OCRL1 in Lowe Syndrome
Liu, Ting
Yue, Zhihui
Wang, Haiyan
Tong, Huajuan
Sun, Liangzhong
INDIAN JOURNAL OF PEDIATRICS, 2015, 82 (01): : 89 - 92
[8] Novel Mutation of OCRL1 in Lowe Syndrome
Ting Liu
Zhihui Yue
Haiyan Wang
Huajuan Tong
Liangzhong Sun
The Indian Journal of Pediatrics, 2015, 82 : 89 - 92
[9] OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome
Luo, Na
West, Callah C.
Murga-Zamalloa, Carlos A.
Sun, Lou
Anderson, Ryan M.
Wells, Clark D.
Weinreb, Robert N.
Travers, Jeffrey B.
Khanna, Hemant
Sun, Yang
HUMAN MOLECULAR GENETICS, 2012, 21 (15) : 3333 - 3344
[10] The study of genotype and phenotype of OCRL1 mutations
Liu, T.
Sun, L.
Yue, Z.
Wang, H.
Lin, H.
PEDIATRIC NEPHROLOGY, 2016, 31 (10) : 1804 - 1804

← 1 2 3 4 5 →