LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1. (Q39900692)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19114714%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

title

LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1 (English)

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19 January 2020

3

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19 January 2020

Gildas Loussouarn

4

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19 January 2020

author name string

David Peroz

1

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19 January 2020

Shehrazade Dahimène

2

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19 January 2020

Jean Mérot

5

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19 January 2020

language of work or name

English

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publication date

29 December 2008

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Journal of Biological Chemistry

19 January 2020

published in

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19 January 2020

volume

284

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19 January 2020

issue

8

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19 January 2020

page(s)

5250-5256

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Clinical practice. Long-QT syndrome

19 January 2020

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A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome

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A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly

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Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).

21 January 2018

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The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome.

21 January 2018

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The novel C-terminal KCNQ1 mutation M520R alters protein trafficking.

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Counting membrane-embedded KCNE beta-subunits in functioning K+ channel complexes

21 January 2018

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K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

21 January 2018

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The role of BiP in endoplasmic reticulum-associated degradation of major histocompatibility complex class I heavy chain induced by cytomegalovirus proteins.

21 January 2018

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Endoplasmic reticulum-associated degradation of mutant CFTR requires a guanine nucleotide-sensitive step

21 January 2018

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Derlin-1 promotes the efficient degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) and CFTR folding mutants

21 January 2018

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Role of S3 and S4 transmembrane domain charged amino acids in channel biogenesis and gating of KCa2.3 and KCa3.1

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21 January 2018

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21 January 2018

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21 January 2018

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Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function.

21 January 2018

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Mutations in the hminK gene cause long QT syndrome and suppress IKs function

21 January 2018

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An LQT mutant minK alters KvLQT1 trafficking

21 January 2018

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KChIP3 rescues the functional expression of Shal channel tetramerization mutants.

21 January 2018

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A comparative study of proteasomal inhibition and apoptosis induced in N27 mesencephalic cells by dopamine and MG132.

21 January 2018

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Lysosome mediated Kir2.1 breakdown directly influences inward rectifier current density.

21 January 2018

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Murine polyomavirus requires the endoplasmic reticulum protein Derlin-2 to initiate infection

21 January 2018

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Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation

21 January 2018

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An HRD/DER-independent ER quality control mechanism involves Rsp5p-dependent ubiquitination and ER-Golgi transport

21 January 2018

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21 January 2018

Identifiers

DOI

10.1074/JBC.M806459200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19114714%20AND%20SRC:MED&resulttype=core&format=json

19 January 2020

1 reference