HERC1 mutations in idiopathic intellectual disability

scientific article published on 16 March 2017

HERC1 mutations in idiopathic intellectual disability is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.EJMG.2017.03.007
P698PubMed publication ID28323226

P50authorCan KosukcuQ87417075
P2093author name stringG Eda Utine
Koray Boduroğlu
Mehmet Alikaşifoğlu
Beren Karaosmanoğlu
Özlem Akgün Doğan
Ekim Z Taşkıran
Naz Güleray
P Özlem Şimşek Kiper
P433issue5
P304page(s)279-283
P577publication date2017-03-16
P1433published inEuropean Journal of Medical GeneticsQ15817083
P1476titleHERC1 mutations in idiopathic intellectual disability
P478volume60

Reverse relations

cites work (P2860)
Q99402514A new homozygous HERC1 gain-of-function variant in MDFPMR syndrome leads to mTORC1 hyperactivation and reduced autophagy during cell catabolism
Q58787210Cancer- and behavior-related genes are targeted by selection in the Tasmanian devil (Sarcophilus harrisii)
Q47636038E3 ubiquitin ligases in cancer and implications for therapies
Q104111265Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience
Q58560845Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging
Q51731923HERC1 Ubiquitin Ligase Is Required for Normal Axonal Myelination in the Peripheral Nervous System.
Q92856896HERCing: Structural and Functional Relevance of the Large HERC Ubiquitin Ligases
Q97643255The HERC1 ubiquitin ligase regulates presynaptic membrane dynamics of central synapses

Search more.