DJ-1 maintains energy and glucose homeostasis by regulating the function of brown adipose tissue
DJ-1 protein is involved in multiple physiological processes, including Parkinson's disease.
However, the role of DJ-1 in the metabolism is largely unknown. Here we found that DJ-1 …
However, the role of DJ-1 in the metabolism is largely unknown. Here we found that DJ-1 …
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy
P Piccolo, S Attanasio, I Secco… - Human Molecular …, 2017 - academic.oup.com
We performed whole exome sequencing in individuals from a family with autosomal
dominant gastropathy resembling Ménétrier disease, a premalignant gastric disorder with …
dominant gastropathy resembling Ménétrier disease, a premalignant gastric disorder with …
Identification of the essential protein domains for Mib2 function during the development of the Drosophila larval musculature and adult flight muscles
K Domsch, A Acs, C Obermeier, HT Nguyen, I Reim - Plos one, 2017 - journals.plos.org
The proper differentiation and maintenance of myofibers is fundamental to a functional
musculature. Disruption of numerous mostly structural factors leads to perturbations of these …
musculature. Disruption of numerous mostly structural factors leads to perturbations of these …
Development of a new screening system for the identification of RNF43-related genes and characterisation of other PA-RING family members.
A Merenda - 2017 - repository.cam.ac.uk
The E3 ubiquitin ligase RNF43 (RING finger protein 43) is an important negative modulator
of the WNT signalling pathway that acts at the plasma membrane by targeting Frizzled and …
of the WNT signalling pathway that acts at the plasma membrane by targeting Frizzled and …
[PDF][PDF] A genetic, epigenetic and transcriptomic study of 22q11. 2 Deletion Syndrome and its schizophrenia phenotype
T Monfeuga - 2017 - core.ac.uk
Abstract 22q11. 2 Deletion Syndrome (22q11. 2DS) is a genetic disorder that results from a
hemizygous deletion at chromosome 22q11. 2, occurring at an incidence of 1 in 4000 live …
hemizygous deletion at chromosome 22q11. 2, occurring at an incidence of 1 in 4000 live …