Nela Pencea
Overview
Explore the profile of Nela Pencea including associated specialties, affiliations and a list of published articles.
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8
Citations
323
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Recent Articles
1.
Turnbull J, Epp J, Goldsmith D, Zhao X, Pencea N, Wang P, et al.
Ann Neurol
. 2014 Jan;
75(3):442-6.
PMID: 24419970
Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein response, microRNA silencing, Wnt signaling, neuronatin-mediated...
2.
Turnbull J, Tiberia E, Pereira S, Zhao X, Pencea N, Wheeler A, et al.
J Biol Chem
. 2013 Oct;
288(48):34627-37.
PMID: 24142699
Glycogen synthesis is a major component of the insulin response, and defective glycogen synthesis is a major portion of insulin resistance. Insulin regulates glycogen synthase (GS) through incompletely defined pathways...
3.
Pederson B, Turnbull J, Epp J, Weaver S, Zhao X, Pencea N, et al.
Ann Neurol
. 2013 Aug;
74(2):297-300.
PMID: 23913475
Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by aggregates of abnormally structured glycogen and proteins (Lafora bodies [LBs]), and neurodegeneration. Whether LBs could be prevented by...
4.
Turnbull J, Girard J, Lohi H, Chan E, Wang P, Tiberia E, et al.
Brain
. 2012 Sep;
135(Pt 9):2684-98.
PMID: 22961547
The most common progressive myoclonus epilepsies are the late infantile and late infantile-variant neuronal ceroid lipofuscinoses (onset before the age of 6 years), Unverricht-Lundborg disease (onset after the age of...
5.
Tiberia E, Turnbull J, Wang T, Ruggieri A, Zhao X, Pencea N, et al.
J Biol Chem
. 2012 Jun;
287(30):25650-9.
PMID: 22669944
The solubility of glycogen, essential to its metabolism, is a property of its shape, a sphere generated through extensive branching during synthesis. Lafora disease (LD) is a severe teenage-onset neurodegenerative...
6.
Gianakopoulos P, Zhang Y, Pencea N, Orlic-Milacic M, Mittal K, Windpassinger C, et al.
Am J Med Genet B Neuropsychiatr Genet
. 2012 Jan;
159B(2):210-6.
PMID: 22213695
The overwhelming majority of Rett syndrome cases are caused by mutations in the gene MECP2. MECP2 has two isoforms, termed MECP2_e1 and MECP2_e2, which differ in their N-terminal amino acid...
7.
Turnbull J, DePaoli-Roach A, Zhao X, Cortez M, Pencea N, Tiberia E, et al.
PLoS Genet
. 2011 May;
7(4):e1002037.
PMID: 21552327
Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies. Pathologically, a starch-like compound, polyglucosan, accumulates...
8.
Turnbull J, Wang P, Girard J, Ruggieri A, Wang T, Draginov A, et al.
Ann Neurol
. 2010 Nov;
68(6):925-33.
PMID: 21077101
Objective: Glycogen, the largest cytosolic macromolecule, acquires solubility, essential to its function, through extreme branching. Lafora bodies are aggregates of polyglucosan, a long, linear, poorly branched, and insoluble form of...