東華大學圖書館 |

Language: English

Help

回圖書館首頁

手機版館藏查詢

Back

Switch To: Labeled | MARC Mode | ISBD

CFTR and cystic fibrosis = from stru...

Farinha, Carlos M.

Linked to FindBook

Google Book

Amazon

博客來

CFTR and cystic fibrosis = from structure to function /

Record Type:	Electronic resources : Monograph/item
Title/Author:	CFTR and cystic fibrosis/ by Carlos M. Farinha.
Reminder of title:	from structure to function /
Author:	Farinha, Carlos M.
Published:	Cham :Springer International Publishing : : 2018.,
Description:	xviii, 56 p. :ill., digital ;24 cm.
[NT 15003449]:	Cystic fibrosis: an overview -- CFTR gene and protein -- CFTR in the cell -- CFTR function -- Therapies aimed at correcting the basic defect.
Contained By:	Springer eBooks
Subject:	Cystic fibrosis - Molecular aspects. -
Online resource:	http://dx.doi.org/10.1007/978-3-319-65494-2
ISBN:	9783319654942

CFTR and cystic fibrosis = from structure to function /
Farinha, Carlos M.

CFTR and cystic fibrosisfrom structure to function /[electronic resource] :by Carlos M. Farinha. - Cham :Springer International Publishing :2018. - xviii, 56 p. :ill., digital ;24 cm. - SpringerBriefs in molecular science,2191-5407. - SpringerBriefs in molecular science..

Cystic fibrosis: an overview -- CFTR gene and protein -- CFTR in the cell -- CFTR function -- Therapies aimed at correcting the basic defect.

This Brief is devoted to the CFTR protein and cystic fibrosis, and it provides an updated perspective of the genetic, functional and cellular processes involved in this conformational disorder. Starting with a historical perspective on cystic fibrosis and its clinical features, the author departs into an in-depth description of the biology of the CFTR protein, ending with a discussion on the latest approaches aimed at developing corrective therapies for cystic fibrosis. First the basic aspects of cystic fibrosis as a disorder are addressed, focusing on genetics and mutation prevalence. Then the CFTR protein is discussed in detail: its structure and classification within the ABC transporter superfamily, its biogenesis with membrane insertion and chaperone assisted folding, its glycosylation and how it regulates the endoplasmatic reticulum quality control mechanisms that assess CFTR folding status. Extra attention is given to post-ER trafficking and regulation of membrane stability and anchoring, and to CFTR functions. This is linked to the molecular mechanisms through which different CFTR mutations cause cystic fibrosis. Finally, the different efforts aiming at rescuing the basic defect, most of which aim at repairing CFTR dysfunction, are covered. Through this integrated perspective, readers will obtain a unique insight into this fascinating membrane-bound protein and its associated disease. This Brief appeals to an audience interested in human genetics, protein folding, protein trafficking and physiology.

ISBN: 9783319654942

Standard No.: 10.1007/978-3-319-65494-2doiSubjects--Topical Terms:

890949
Cystic fibrosis
--Molecular aspects.

LC Class. No.: RC858.C95

Dewey Class. No.: 616.372

CFTR and cystic fibrosis = from structure to function /
LDR:02684nmm a2200325 a 4500 001 2131492
003 DE-He213
005 20180612151446.0
006 m d
007 cr nn 008maaau
008 181005s2018 gw s 0 eng d
020 $a 9783319654942 $q (electronic bk.)
020 $a 9783319654935 $q (paper)
024 7 $a 10.1007/978-3-319-65494-2 $2 doi
035 $a 978-3-319-65494-2
040 $a GP $c GP
041 0 $a eng
050 4 $a RC858.C95
072 7 $a PSB $2 bicssc
072 7 $a SCI013020 $2 bisacsh
082 0 4 $a 616.372 $2 23
090 $a RC858.C95 $b F226 2018
100 1 $a Farinha, Carlos M. $3 3297108
245 1 0 $a CFTR and cystic fibrosis $h [electronic resource] : $b from structure to function / $c by Carlos M. Farinha.
260 $a Cham : $b Springer International Publishing : $b Imprint: Springer, $c 2018.
300 $a xviii, 56 p. : $b ill., digital ; $c 24 cm.
490 1 $a SpringerBriefs in molecular science, $x 2191-5407
505 0 $a Cystic fibrosis: an overview -- CFTR gene and protein -- CFTR in the cell -- CFTR function -- Therapies aimed at correcting the basic defect.
520 $a This Brief is devoted to the CFTR protein and cystic fibrosis, and it provides an updated perspective of the genetic, functional and cellular processes involved in this conformational disorder. Starting with a historical perspective on cystic fibrosis and its clinical features, the author departs into an in-depth description of the biology of the CFTR protein, ending with a discussion on the latest approaches aimed at developing corrective therapies for cystic fibrosis. First the basic aspects of cystic fibrosis as a disorder are addressed, focusing on genetics and mutation prevalence. Then the CFTR protein is discussed in detail: its structure and classification within the ABC transporter superfamily, its biogenesis with membrane insertion and chaperone assisted folding, its glycosylation and how it regulates the endoplasmatic reticulum quality control mechanisms that assess CFTR folding status. Extra attention is given to post-ER trafficking and regulation of membrane stability and anchoring, and to CFTR functions. This is linked to the molecular mechanisms through which different CFTR mutations cause cystic fibrosis. Finally, the different efforts aiming at rescuing the basic defect, most of which aim at repairing CFTR dysfunction, are covered. Through this integrated perspective, readers will obtain a unique insight into this fascinating membrane-bound protein and its associated disease. This Brief appeals to an audience interested in human genetics, protein folding, protein trafficking and physiology.
650 0 $a Cystic fibrosis $x Molecular aspects. $3 890949
650 0 $a Protein folding. $3 661545
650 1 4 $a Chemistry. $3 516420
650 2 4 $a Medicinal Chemistry. $3 892420
650 2 4 $a Protein Structure. $3 1006100
650 2 4 $a Pneumology/Respiratory System. $3 894348
650 2 4 $a Human Genetics. $3 891169
650 2 4 $a Molecular Medicine. $3 890952
710 2 $a SpringerLink (Online service) $3 836513
773 0 $t Springer eBooks
830 0 $a SpringerBriefs in molecular science. $3 1565866
856 4 0 $u http://dx.doi.org/10.1007/978-3-319-65494-2
950 $a Chemistry and Materials Science (Springer-11644)