Neuronatin-mediated Aberrant Calcium Signaling and Endoplasmic Reticulum Stress Underlie Neuropathology in Lafora Disease

Malin Regulates Wnt Signaling Pathway through Degradation of Dishevelled2

(2012) Jaiprakash Sharma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease

(2011) Jordi Valles-Ortega et al.   EMBO Molecular Medicine

Dysfunctions in endosomal–lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease

(2011) Rajat Puri et al.   HUMAN MOLECULAR GENETICS

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

(2011) Olga Criado et al.   HUMAN MOLECULAR GENETICS

Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis

(2011) Jaiprakash Sharma et al.   NEUROBIOLOGY OF DISEASE

PTG Depletion Removes Lafora Bodies and Rescues the Fatal Epilepsy of Lafora Disease

(2011) Julie Turnbull et al.   PLoS Genetics

Glycogen hyperphosphorylation underlies lafora body formation

(2010) Julie Turnbull et al.   ANNALS OF NEUROLOGY

Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin

(2010) Sudheendra N.R. Rao et al.   HUMAN MOLECULAR GENETICS

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

(2010) Carmen Aguado et al.   HUMAN MOLECULAR GENETICS

Genetic Depletion of the Malin E3 Ubiquitin Ligase in Mice Leads to Lafora Bodies and the Accumulation of Insoluble Laforin

(2010) Anna A. DePaoli-Roach et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Abundant expression of neuronatin in normal eccrine, apocrine and sebaceous glands and their neoplasms

(2010) Long DUGU et al.   JOURNAL OF DERMATOLOGY

Neuronatin Promotes Neural Lineage in ESCs via Ca2+ Signaling

(2010) Hsuan-Hwai Lin et al.   STEM CELLS

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes

(2009) Shweta Singh et al.   HUMAN MUTATION

Co-chaperone CHIP Stabilizes Aggregate-prone Malin, a Ubiquitin Ligase Mutated in Lafora Disease

(2009) Sudheendra N. R. Rao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Ubiquitin Ligase E6-AP Is Induced and Recruited to Aggresomes in Response to Proteasome Inhibition and May Be Involved in the Ubiquitination of Hsp70-bound Misfolded Proteins

(2009) Amit Mishra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Imprinted Gene Neuronatin Is Regulated by Metabolic Status and Associated With Obesity

(2009) Niels Vrang et al.   Obesity

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin

(2009) Santiago Vernia et al.   PLoS One

Crucial roles of neuronatin in insulin secretion and high glucose-induced apoptosis in pancreatic β-cells

(2008) Myung Kuk Joe et al.   CELLULAR SIGNALLING

Neuronatin: A New Inflammation Gene Expressed on the Aortic Endothelium of Diabetic Mice

(2008) N. Mzhavia et al.   DIABETES

The malin–laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin–proteasome system

(2008) Punitee Garyali et al.   HUMAN MOLECULAR GENETICS