scholarly journals Liddle’s Syndrome Caused by a Novel Mutation in the Proline-Rich PY Motif of the Epithelial Sodium Channel β-Subunit

2005 ◽  
Vol 90 (1) ◽  
pp. 340-344 ◽  
Author(s):  
Masato Furuhashi ◽  
Kenichiro Kitamura ◽  
Masataka Adachi ◽  
Taku Miyoshi ◽  
Naoki Wakida ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Novel Mutation ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome ◽  
Py Motif

scholarly journals A Family with Liddle’s Syndrome Caused by a New Missense Mutation in the β Subunit of the Epithelial Sodium Channel

1998 ◽  
Vol 83 (6) ◽  
pp. 2210-2213 ◽  
Author(s):  
Junnosuke Inoue ◽  
Taisuke Iwaoka ◽  
Hiroshi Tokunaga ◽  
Kazufumi Takamune ◽  
Shojiro Naomi ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Sodium Current ◽  
Epithelial Sodium Channel ◽  
Missense Mutations ◽  
Β Subunit ◽  
Dominant Form ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome ◽  
Py Motif

Liddle’s syndrome is an autosomal dominant form of salt sensitive hypertension caused by mutations in the β or γ subunit of the epithelial sodium channel. Systemic mutagenesis studies revealed that a conserved PPPXY sequence (PY motif) of the C-terminus of the α, β, or γ subunits might be involved in the regulation of the channel activity. However, only two missense mutations in the PY motif of theβ subunit have been reported to cause Liddle’s syndrome. We sequenced the C-termini of the β and γ subunits of the epithelial sodium channel in a Japanese family clinically diagnosed as having Liddle’s syndrome and found a new missense mutation in the PY motif of the β subunit, P615S. Expression studies with P615S mutant in Xenopus oocytes resulted in an about 3-fold increase in the amiloride-sensitive sodium current compared to the wild type (p = 0.001). These findings provide further clinical evidence for the hypothesis that a conserved PY motif may be critically important for the regulation of the epithelial sodium channel.

Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel

Cell ◽  
1994 ◽  
Vol 79 (3) ◽  
pp. 407-414 ◽  
Author(s):  
Richard A. Shimkets ◽  
David G. Warnock ◽  
Christopher M. Bositis ◽  
Carol Nelson-Williams ◽  
Joni H. Hansson ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Human Hypertension ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel

1996 ◽  
Vol 10 (3) ◽  
pp. 342-342
Author(s):  
Richard A. Shimkets ◽  
David G. Warnock ◽  
Christopher M. Bositis ◽  
Carol Nelson-Williams ◽  
Joni H. Hansson ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Human Hypertension ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

A FAMILY WITH LIDDLE'S SYNDROME CAUSED BY A MUTATION IN THE β SUBUNIT OF THE EPITHELIAL SODIUM CHANNEL

2001 ◽  
Vol 23 (6) ◽  
pp. 471-478 ◽  
Author(s):  
M. Kyuma ◽  
N. Ura ◽  
T. Torii ◽  
H. Takeuchi ◽  
H. Takizawa ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel γ subunit

2002 ◽  
Vol 20 (12) ◽  
pp. 2383-2390 ◽  
Author(s):  
Timo P Hiltunen ◽  
Tuula Hannila-Handelberg ◽  
Noora Petäjäniemi ◽  
Ilkka Kantola ◽  
Ilkka Tikkanen ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Point Mutation ◽  
Epithelial Sodium Channel ◽  
Extracellular Domain ◽  
Γ Subunit ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome

scholarly journals Aldosterone responsiveness of the epithelial sodium channel (ENaC) in colon is increased in a mouse model for Liddle's syndrome

2008 ◽  
Vol 586 (2) ◽  
pp. 459-475 ◽  
Author(s):  
Marko Bertog ◽  
John E. Cuffe ◽  
Sylvain Pradervand ◽  
Edith Hummler ◽  
Andrea Hartner ◽  
...  
Keyword(s):  
Mouse Model ◽  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome ◽  
Epithelial Sodium Channel Enac
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