The Resource CFTR and Cystic Fibrosis : From Structure to Function, by Carlos M. Farinha, (electronic resource)

CFTR and Cystic Fibrosis : From Structure to Function, by Carlos M. Farinha, (electronic resource)

Label
CFTR and Cystic Fibrosis : From Structure to Function
Title
CFTR and Cystic Fibrosis
Title remainder
From Structure to Function
Statement of responsibility
by Carlos M. Farinha
Creator
Contributor
Author
Provider
Subject
Language
eng
Summary
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.
Member of
http://library.link/vocab/creatorName
Farinha, Carlos M
Image bit depth
0
LC call number
RS400-431
Literary form
non fiction
http://library.link/vocab/relatedWorkOrContributorName
SpringerLink
Series statement
SpringerBriefs in Molecular Science,
http://library.link/vocab/subjectName
  • Chemistry
  • Human genetics
  • Molecular biology
  • Pharmaceutical chemistry
  • Respiratory organs
  • Proteins
  • Chemistry
  • Medicinal Chemistry
  • Protein Structure
  • Pneumology/Respiratory System
  • Human Genetics
  • Molecular Medicine
Label
CFTR and Cystic Fibrosis : From Structure to Function, by Carlos M. Farinha, (electronic resource)
Instantiates
Publication
Antecedent source
mixed
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
not applicable
Content category
text
Content type code
txt
Content type MARC source
rdacontent
Contents
Cystic fibrosis: an overview -- CFTR gene and protein -- CFTR in the cell -- CFTR function -- Therapies aimed at correcting the basic defect
Dimensions
unknown
Extent
XVIII, 56 p. 10 illus. in color.
File format
multiple file formats
Form of item
electronic
Isbn
9783319654942
Level of compression
uncompressed
Media category
computer
Media MARC source
rdamedia
Media type code
c
Other control number
10.1007/978-3-319-65494-2
Other physical details
online resource.
Quality assurance targets
absent
Reformatting quality
access
Specific material designation
remote
System control number
(DE-He213)978-3-319-65494-2
Label
CFTR and Cystic Fibrosis : From Structure to Function, by Carlos M. Farinha, (electronic resource)
Publication
Antecedent source
mixed
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Color
not applicable
Content category
text
Content type code
txt
Content type MARC source
rdacontent
Contents
Cystic fibrosis: an overview -- CFTR gene and protein -- CFTR in the cell -- CFTR function -- Therapies aimed at correcting the basic defect
Dimensions
unknown
Extent
XVIII, 56 p. 10 illus. in color.
File format
multiple file formats
Form of item
electronic
Isbn
9783319654942
Level of compression
uncompressed
Media category
computer
Media MARC source
rdamedia
Media type code
c
Other control number
10.1007/978-3-319-65494-2
Other physical details
online resource.
Quality assurance targets
absent
Reformatting quality
access
Specific material designation
remote
System control number
(DE-He213)978-3-319-65494-2

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