Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies.

Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies. Research Abstract Details 

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Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies. Abstract Text:

Ronald C Rubenstein,

Cystic fibrosis (CF) results from the absence or dysfunction of a single protein, the CF transmembrane conductance regulator (CFTR). CFTR plays a critical role in the regulation of ion transport in a number of exocrine epithelia. Improvement or restoration of CFTR function, where it is deficient, should improve the CF phenotype. There are >1000 reported disease-causing mutations of the CFTR gene. Recent investigations have afforded a better understanding of the mechanism of dysfunction of many of these mutant CFTRs, and have allowed them to be classified according to their mechanism of dysfunction. These data, as well as an enhanced understanding of the role of CFTR in regulating epithelial ion transport, have led to the development of therapeutic strategies based on pharmacologic enhancement or repair of mutant CFTR dysfunction. The strategy, termed 'protein repair therapy', is aimed at improving the regulation of epithelial ion transport by mutant CFTRs in a mutation-specific fashion. The grouping of CFTR gene mutations, according to mechanism of dysfunction, yields some guidance as to which pharmacologic repair agents may be useful for specific CFTR mutations. Recent data has suggested that combinations of pharmacologic repair agents may be necessary to obtain clinically meaningful CFTR repair. Nevertheless, such strategies to improve mutant CFTR function hold great promise for the development of novel therapies aimed at correcting the underlying pathophysiology of CF.

Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies. Publishing Authors By Initials

RC Rubenstein,

For similar respiratory system: respiratory mucosa research abstracts see: respiratory system: respiratory mucosa research

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Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies. Journal Published:

PUBLICATION TYPE: Review

Journal: Molecular diagnosis & therapy

VOLUME: 10

Page Numbers: 293-301

Journal Abbreviation:

ISSN: 1177-1062

DAY: 3

MONTH: 12

YEAR: 2006

Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101264260

Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies. Keywords Mesh Terms:

KEYWORDS: Respiratory Mucosa

MESH TERMS: metabolism

Chemical & Substance for Abstract: Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies. Information

Substance Name: Cystic Fibrosis Transmembrane Conductanc

Registry Number: 126880-72-6

Grant and Affiliation Information for Targeted therapy for cystic fibrosis: cystic fibrosis transmembrane conductance regulator mutation-specific pharmacologic strategies.

AFFILIATION: Division of Pulmonary Medicine and Cystic Fibrosis Center, Children's Hospital of Philadelphia, PA 19104, USA. rrubenst@mail.med.upenn.edu

Country: New Zealand

AGENCY: United States NIDDK

GRANT: R01-DK58046

ACRONYM: DK

MEDLINETA: Mol Diagn Ther

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