Published in Cell Death Differ on June 16, 2017
In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker. Mol Biol Cell (2003) 17.55
ER-to-Golgi transport visualized in living cells. Nature (1997) 10.24
Sigma-1 receptor chaperones at the ER-mitochondrion interface regulate Ca(2+) signaling and cell survival. Cell (2007) 6.13
Methods for monitoring autophagy from yeast to human. Autophagy (2007) 4.89
Autophagosomes form at ER-mitochondria contact sites. Nature (2013) 4.32
In search of an "autophagomometer". Autophagy (2009) 4.31
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet (2004) 4.20
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis. Neuron (2013) 3.63
State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci (2013) 3.54
Dynamics and retention of misfolded proteins in native ER membranes. Nat Cell Biol (2000) 3.34
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet (2004) 3.00
A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann Neurol (2011) 2.51
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration. Brain (2015) 2.20
Calcium signaling and neurodegenerative diseases. Trends Mol Med (2009) 2.03
Monitoring autophagy in mammalian cultured cells through the dynamics of LC3. Methods Enzymol (2009) 1.99
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci (2014) 1.98
Regulated protein aggregation: stress granules and neurodegeneration. Mol Neurodegener (2012) 1.95
Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS. Nat Neurosci (2015) 1.59
Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin-proteasome system. Neurosci Lett (2009) 1.53
Misregulated RNA processing in amyotrophic lateral sclerosis. Brain Res (2012) 1.42
TDP-43 aggregation in neurodegeneration: are stress granules the key? Brain Res (2012) 1.35
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Synergistic effect between proteasome and autophagosome in the clearance of polyubiquitinated TDP-43. J Neurosci Res (2010) 1.26
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease. Ann Neurol (2010) 1.21
ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB. J Neurochem (2009) 1.18
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum. FASEB J (2009) 1.13
Matrin 3 binds and stabilizes mRNA. PLoS One (2011) 1.11
Is SOD1 loss of function involved in amyotrophic lateral sclerosis? Brain (2013) 1.05
Crystal structure of the human σ1 receptor. Nature (2016) 1.03
Autophagy regulates amyotrophic lateral sclerosis-linked fused in sarcoma-positive stress granules in neurons. Neurobiol Aging (2014) 1.03
A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect. J Cell Sci (2012) 0.99
Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects. Acta Neuropathol (2012) 0.99
Sigma-1R agonist improves motor function and motoneuron survival in ALS mice. Neurotherapeutics (2012) 0.98
Altered localization, abnormal modification and loss of function of Sigma receptor-1 in amyotrophic lateral sclerosis. Hum Mol Genet (2013) 0.97
Lack of sigma-1 receptor exacerbates ALS progression in mice. Neuroscience (2013) 0.97
NMDA receptors are upregulated and trafficked to the plasma membrane after sigma-1 receptor activation in the rat hippocampus. J Neurosci (2014) 0.96
Role of sigma-1 receptors in neurodegenerative diseases. J Pharmacol Sci (2014) 0.94
The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case. Clin Genet (2010) 0.93
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology. Acta Neuropathol (2013) 0.89
Mitochondria-associated membranes as hubs for neurodegeneration. Acta Neuropathol (2016) 0.87
Sigma-1 receptor mediates cocaine-induced transcriptional regulation by recruiting chromatin-remodeling factors at the nuclear envelope. Proc Natl Acad Sci U S A (2015) 0.87
Loss of function of the ALS protein SigR1 leads to ER pathology associated with defective autophagy and lipid raft disturbances. Cell Death Dis (2014) 0.86
Invited review: decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art. Neuropathol Appl Neurobiol (2015) 0.85
Methyl pyruvate rescues mitochondrial damage caused by SIGMAR1 mutation related to amyotrophic lateral sclerosis. Biochim Biophys Acta (2014) 0.82
Phenotype of matrin-3-related distal myopathy in 16 German patients. Ann Neurol (2014) 0.82
Fluvoxamine alleviates ER stress via induction of Sigma-1 receptor. Cell Death Dis (2014) 0.82
Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions. Sci Rep (2015) 0.81
Amyotrophic lateral sclerosis-linked mutant VAPB enhances TDP-43-induced motor neuronal toxicity. J Neurochem (2011) 0.80
Mitochondria-associated membrane collapse is a common pathomechanism in SIGMAR1- and SOD1-linked ALS. EMBO Mol Med (2016) 0.79
Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment. Acta Neuropathol Commun (2013) 0.79
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling. Hum Mol Genet (2016) 0.78
ALS-associated endoplasmic reticulum proteins in denervated skeletal muscle: Implications for motor neuron disease pathology. Brain Pathol (2016) 0.77
Aberrant Subcellular Dynamics of Sigma-1 Receptor Mutants Underlying Neuromuscular Diseases. Mol Pharmacol (2016) 0.76
Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype. Acta Neuropathol Commun (2016) 0.75
Co-expression of cyclin D1 and phosphorylated ribosomal S6 proteins in hemimegalencephaly. Acta Neuropathol (2007) 1.00
Surface topography enhances differentiation of mesenchymal stem cells towards osteogenic and adipogenic lineages. Biomaterials (2015) 0.88
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant. Nat Commun (2015) 0.84
Standardization procedure for plasma biomarker analysis in rat models of epileptogenesis: Focus on circulating microRNAs. Epilepsia (2017) 0.75