Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

Tina Skjørringe; Per Amstrup Pedersen; Sidsel Salling Thorborg; Poul Nissen; Pontus Emanuel Gourdon; Lisbeth Birk Møller

doi:10.1038/s41598-017-00618-6

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

Tina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, Poul Nissen, Pontus Emanuel Gourdon, Lisbeth Birk Møller

Research output: Contribution to journal › Journal article › Research › peer-review

32 Citations (Scopus)

290 Downloads (Pure)

Original language	English
Article number	757
Journal	Scientific Reports
Volume	7
Number of pages	18
ISSN	2045-2322
DOIs	https://doi.org/10.1038/s41598-017-00618-6
Publication status	Published - 7 Apr 2017

Access to Document

10.1038/s41598-017-00618-6Licence: CC BY

Skjørringe_2017_Characterization_of_ATP7AFinal published version, 4.82 MBLicence: CC BY

Cite this

Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. / Skjørringe, Tina; Pedersen, Per Amstrup; Thorborg, Sidsel Salling; Nissen, Poul; Gourdon, Pontus Emanuel; Møller, Lisbeth Birk.

In: Scientific Reports, Vol. 7, 757, 07.04.2017.

Research output: Contribution to journal › Journal article › Research › peer-review

@article{1e2115a9bcf648c888d2af2c8f46c075,

title = "Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease",

author = "Tina Skj{\o}rringe and Pedersen, {Per Amstrup} and Thorborg, {Sidsel Salling} and Poul Nissen and Gourdon, {Pontus Emanuel} and M{\o}ller, {Lisbeth Birk}",

year = "2017",

month = apr,

day = "7",

doi = "10.1038/s41598-017-00618-6",

language = "English",

volume = "7",

journal = "Scientific Reports",

issn = "2045-2322",

publisher = "nature publishing group",

}

TY - JOUR

T1 - Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease

AU - Skjørringe, Tina

AU - Pedersen, Per Amstrup

AU - Thorborg, Sidsel Salling

AU - Nissen, Poul

AU - Gourdon, Pontus Emanuel

AU - Møller, Lisbeth Birk

PY - 2017/4/7

Y1 - 2017/4/7

U2 - 10.1038/s41598-017-00618-6

DO - 10.1038/s41598-017-00618-6

M3 - Journal article

C2 - 28389643

VL - 7

JO - Scientific Reports

JF - Scientific Reports

SN - 2045-2322

M1 - 757

ER -