Published in Neurobiol Dis on June 28, 2010
The role of autophagy in neurodegenerative disease. Nat Med (2013) 4.46
Autophagy in lysosomal storage disorders. Autophagy (2012) 1.59
Clarifying lysosomal storage diseases. Trends Neurosci (2011) 1.57
Lysosomal physiology. Annu Rev Physiol (2015) 1.34
Autophagy failure in Alzheimer's disease and the role of defective lysosomal acidification. Eur J Neurosci (2013) 1.27
Miz1 is required to maintain autophagic flux. Nat Commun (2013) 1.12
Mucolipidosis type IV: an update. Mol Genet Metab (2011) 1.05
A molecular mechanism to regulate lysosome motility for lysosome positioning and tubulation. Nat Cell Biol (2016) 1.02
The role of TRPMLs in endolysosomal trafficking and function. Cell Calcium (2014) 0.99
Role of TRP channels in the regulation of the endosomal pathway. Physiology (Bethesda) (2011) 0.98
Calcium-permeable ion channels in control of autophagy and cancer. Front Physiol (2013) 0.91
Loss of lysosomal ion channel transient receptor potential channel mucolipin-1 (TRPML1) leads to cathepsin B-dependent apoptosis. J Biol Chem (2012) 0.88
A phenotypic compound screening assay for lysosomal storage diseases. J Biomol Screen (2013) 0.87
Transcriptome analysis of genes regulated by cholesterol loading in two strains of mouse macrophages associates lysosome pathway and ER stress response with atherosclerosis susceptibility. PLoS One (2013) 0.85
ROS and intracellular ion channels. Cell Calcium (2016) 0.83
The mucolipidosis IV Ca2+ channel TRPML1 (MCOLN1) is regulated by the TOR kinase. Biochem J (2015) 0.82
Diminished MTORC1-Dependent JNK Activation Underlies the Neurodevelopmental Defects Associated with Lysosomal Dysfunction. Cell Rep (2015) 0.81
Fig4 deficiency: a newly emerged lysosomal storage disorder? Prog Neurobiol (2012) 0.80
"TRP inflammation" relationship in cardiovascular system. Semin Immunopathol (2015) 0.78
Functional role of TRP channels in modulating ER stress and Autophagy. Cell Calcium (2016) 0.77
Lysosomal Storage Diseases-Regulating Neurodegeneration. J Exp Neurosci (2016) 0.75
Suppression of the motor deficit in a mucolipidosis type IV mouse model by bone marrow transplantation. Hum Mol Genet (2016) 0.75
Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV. Am J Pathol (2015) 0.75
The first genetically confirmed Japanese patient with mucolipidosis type IV. Clin Case Rep (2016) 0.75
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV. Neurobiol Dis (2017) 0.75
LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing. EMBO J (2000) 41.48
p62/SQSTM1 binds directly to Atg8/LC3 to facilitate degradation of ubiquitinated protein aggregates by autophagy. J Biol Chem (2007) 21.73
Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature (2006) 21.40
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes. Autophagy (2007) 20.92
p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death. J Cell Biol (2005) 18.23
How to interpret LC3 immunoblotting. Autophagy (2007) 12.30
Optimized survival of hippocampal neurons in B27-supplemented Neurobasal, a new serum-free medium combination. J Neurosci Res (1993) 9.81
Cullin3-based polyubiquitination and p62-dependent aggregation of caspase-8 mediate extrinsic apoptosis signaling. Cell (2009) 5.55
Enhancing macroautophagy protects against ischemia/reperfusion injury in cardiac myocytes. J Biol Chem (2006) 4.57
In search of an "autophagomometer". Autophagy (2009) 4.31
Consequences of the selective blockage of chaperone-mediated autophagy. Proc Natl Acad Sci U S A (2006) 3.87
LC3 and Autophagy. Methods Mol Biol (2008) 3.59
A block of autophagy in lysosomal storage disorders. Hum Mol Genet (2007) 3.28
Identification of the gene causing mucolipidosis type IV. Nat Genet (2000) 2.87
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). Am J Pathol (2005) 2.56
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet (2000) 2.43
Ubiquitin-binding protein p62 is present in neuronal and glial inclusions in human tauopathies and synucleinopathies. Neuroreport (2001) 2.41
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem (2006) 2.34
Neurodegenerative lysosomal disorders: a continuum from development to late age. Autophagy (2008) 2.29
Cathepsin D deficiency induces lysosomal storage with ceroid lipofuscin in mouse CNS neurons. J Neurosci (2000) 2.21
Constitutive activation of chaperone-mediated autophagy in cells with impaired macroautophagy. Mol Biol Cell (2008) 2.14
Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet (2000) 2.08
Autophagy in neurons: a review. Histol Histopathol (2002) 1.96
Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic. Traffic (2006) 1.92
Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1. J Biol Chem (2006) 1.90
Two di-leucine motifs regulate trafficking of mucolipin-1 to lysosomes. Traffic (2006) 1.84
Frontotemporal lobar degeneration with ubiquitinated tau-negative inclusions and additional alpha-synuclein pathology but also unusual cerebellar ubiquitinated p62-positive, TDP-43-negative inclusions. Neuropathology (2008) 1.83
TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage. J Biol Chem (2005) 1.75
Autophagy and the ubiquitin-proteasome system: collaborators in neuroprotection. Biochim Biophys Acta (2008) 1.73
Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum Mol Genet (2007) 1.73
Long-term culture of mouse cortical neurons as a model for neuronal development, aging, and death. J Neurobiol (2002) 1.72
Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. Cell (2008) 1.69
Autophagic dysfunction in mucolipidosis type IV patients. Hum Mol Genet (2008) 1.66
Congenital corneal clouding with abnormal systemic storage bodies: a new variant of mucolipidosis. J Pediatr (1974) 1.64
Mitochondrial aberrations in mucolipidosis Type IV. J Biol Chem (2006) 1.61
Lysosomal storage diseases as disorders of autophagy. Autophagy (2007) 1.46
Lysosomal exocytosis is impaired in mucolipidosis type IV. Mol Genet Metab (2006) 1.45
Signaling, polyubiquitination, trafficking, and inclusions: sequestosome 1/p62's role in neurodegenerative disease. J Biomed Biotechnol (2006) 1.44
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet (2007) 1.44
Neurodegeneration with tau accumulation in a transgenic mouse expressing V337M human tau. J Neurosci (2002) 1.42
Morphogenesis of Lewy bodies: dissimilar incorporation of alpha-synuclein, ubiquitin, and p62. J Neuropathol Exp Neurol (2003) 1.41
Monitoring autophagy in lysosomal storage disorders. Methods Enzymol (2009) 1.40
Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization. FEBS Lett (2004) 1.35
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett (2002) 1.31
Chaperone-mediated autophagy: molecular mechanisms and physiological relevance. Semin Cell Dev Biol (2010) 1.30
Lysosomal trafficking functions of mucolipin-1 in murine macrophages. BMC Cell Biol (2007) 1.27
Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. J Neuropathol Exp Neurol (2009) 1.26
Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol (2009) 1.25
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Hum Mutat (2004) 1.22
Cultured skin fibroblasts derived from patients with mucolipidosis 4 are auto-fluorescent. Pediatr Res (1995) 1.17
Autophagy and neurodegeneration. Curr Neurol Neurosci Rep (2007) 1.12
A novel link between autophagy and the ubiquitin-proteasome system. Autophagy (2009) 1.11
Posttranslational cleavage and adaptor protein complex-dependent trafficking of mucolipin-1. J Biol Chem (2006) 1.10
Review: autophagy in neurodegeneration: firefighter and/or incendiarist? Neuropathol Appl Neurobiol (2009) 1.09
TRPpathies. J Physiol (2006) 1.04
Mucolipidosis type IV: characteristic MRI findings. Neurology (1998) 1.00
When more is less: excess and deficiency of autophagy coexist in skeletal muscle in Pompe disease. Autophagy (2009) 0.99
Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. Genet Test (2001) 0.89
Developmental analysis of CNS pathology in the lysosomal storage disease alpha-mannosidosis. J Neuropathol Exp Neurol (2007) 0.87
Isolation of mouse neuritic mRNAs. J Mol Histol (2006) 0.78
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science (2006) 27.96
The GPR54 gene as a regulator of puberty. N Engl J Med (2003) 9.54
Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS One (2009) 2.90
Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem (2006) 2.34
Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci U S A (2004) 2.32
Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc Natl Acad Sci U S A (2004) 2.28
Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell (2006) 2.02
Absence of colony stimulation factor-1 receptor results in loss of microglia, disrupted brain development and olfactory deficits. PLoS One (2011) 1.92
New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. Circulation (2005) 1.87
Differential genomic targeting of the transcription factor TAL1 in alternate haematopoietic lineages. EMBO J (2010) 1.82
Designed biomaterials to mimic the mechanical properties of muscles. Nature (2010) 1.80
Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics (2010) 1.77
Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol (2004) 1.74
Microglial stimulation of glioblastoma invasion involves epidermal growth factor receptor (EGFR) and colony stimulating factor 1 receptor (CSF-1R) signaling. Mol Med (2012) 1.64
Pregnane X receptor (PXR) activation: a mechanism for neuroprotection in a mouse model of Niemann-Pick C disease. Proc Natl Acad Sci U S A (2006) 1.62
Autophagy in lysosomal storage disorders. Autophagy (2012) 1.59
Molecular events of cellular apoptosis and proliferation in the early tendon healing period. J Hand Surg Am (2010) 1.55
Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression. Clin Auton Res (2005) 1.52
Genetic and epigenetic determinants of neurogenesis and myogenesis. Dev Cell (2012) 1.47
Pbx homeodomain proteins direct Myod activity to promote fast-muscle differentiation. Development (2007) 1.47
Lysosomal exocytosis is impaired in mucolipidosis type IV. Mol Genet Metab (2006) 1.45
Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet (2007) 1.44
Effect of A2 pulley release on repaired tendon gliding resistance and rupture in a chicken model. J Hand Surg Am (2009) 1.43
Intrastrand annealing leads to the formation of a large DNA palindrome and determines the boundaries of genomic amplification in human cancer. Mol Cell Biol (2007) 1.36
Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol (2008) 1.35
Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent. Curr Biol (2003) 1.33
Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett (2002) 1.31
An evidence development process for newborn screening. Genet Med (2010) 1.28
Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci (2004) 1.27
Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. J Neuropathol Exp Neurol (2009) 1.26
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet (2003) 1.26
Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol (2009) 1.25
An Arabidopsis soil-salinity-tolerance mutation confers ethylene-mediated enhancement of sodium/potassium homeostasis. Plant Cell (2013) 1.25
Manipulating Robo expression in vivo perturbs commissural axon pathfinding in the chick spinal cord. J Neurosci (2008) 1.24
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem (2012) 1.23
Single-molecule force spectroscopy reveals a mechanically stable protein fold and the rational tuning of its mechanical stability. Proc Natl Acad Sci U S A (2007) 1.22
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet (2001) 1.21
[Epidemiological study on group infection of Angiostrongylus cantonensis in Changle City]. Zhongguo Ji Sheng Chong Xue Yu Ji Sheng Chong Bing Za Zhi (2003) 1.20
Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease. Curr Top Med Chem (2014) 1.19
MyoD and E-protein heterodimers switch rhabdomyosarcoma cells from an arrested myoblast phase to a differentiated state. Genes Dev (2009) 1.18
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med (Berl) (2007) 1.17
Adaptive response in mice exposed to 900 MHz radiofrequency fields: primary DNA damage. PLoS One (2012) 1.17
Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. Biochem Biophys Res Commun (2004) 1.16
The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder. Biol Psychiatry (2005) 1.15
Mid-term outcomes after intramedullary fixation of peritrochanteric femoral fractures using the new proximal femoral nail antirotation (PFNA). Injury (2010) 1.15
Lysosomal activity associated with developmental axon pruning. J Neurosci (2008) 1.15
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay. Am J Med Genet B Neuropsychiatr Genet (2010) 1.13
Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C. J Neuropathol Exp Neurol (2012) 1.12
Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage. FASEB J (2005) 1.12
Protein mechanics: from single molecules to functional biomaterials. Acc Chem Res (2010) 1.11
Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. Neurobiol Dis (2005) 1.11
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. Hum Mol Genet (2012) 1.10
A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet (2003) 1.10
miR-495 and miR-551a inhibit the migration and invasion of human gastric cancer cells by directly interacting with PRL-3. Cancer Lett (2012) 1.10
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet (2012) 1.09
Degradation behavior of poly(epsilon-caprolactone)-b-poly(ethylene glycol)-b-poly(epsilon-caprolactone) micelles in aqueous solution. Biomacromolecules (2004) 1.09
Naive CD8 T-cells initiate spontaneous autoimmunity to a sequestered model antigen of the central nervous system. Brain (2008) 1.08
Tendon healing in vivo: gene expression and production of multiple growth factors in early tendon healing period. J Hand Surg Am (2008) 1.08
A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics (2007) 1.08
Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Biol Psychiatry (2003) 1.07
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. J Lipid Res (2013) 1.07
Adeno-associated virus-2-mediated bFGF gene transfer to digital flexor tendons significantly increases healing strength. an in vivo study. J Bone Joint Surg Am (2008) 1.07
Tissue-specific splicing of a ubiquitously expressed transcription factor is essential for muscle differentiation. Genes Dev (2013) 1.06
The effect of combined exposure of 900 MHz radiofrequency fields and doxorubicin in HL-60 cells. PLoS One (2012) 1.05
Methylation of tumor associated genes in tissue and plasma samples from liver disease patients. Exp Mol Pathol (2008) 1.05
Polycystin-1L2 is a novel G-protein-binding protein. Genomics (2004) 1.04
The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1. Pflugers Arch (2009) 1.04
Core suture purchase affects strength of tendon repairs. J Hand Surg Am (2005) 1.04
Engineering proteins with novel mechanical properties by recombination of protein fragments. Angew Chem Int Ed Engl (2006) 1.03
Rescue of neurodegeneration in Niemann-Pick C mice by a prion-promoter-driven Npc1 cDNA transgene. Hum Mol Genet (2002) 1.03
Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res (2011) 1.02
The heparan sulfate proteoglycan agrin modulates neurite outgrowth mediated by FGF-2. J Neurobiol (2003) 1.02
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. Brain (2011) 1.01
Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. PLoS One (2011) 1.01
The effectiveness of propranolol in treating infantile haemangiomas: a meta-analysis including 35 studies. Br J Clin Pharmacol (2014) 1.01
Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. Pediatr Res (2009) 1.00
SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience. Amyotroph Lateral Scler (2012) 0.99
MyoD directly up-regulates premyogenic mesoderm factors during induction of skeletal myogenesis in stem cells. J Biol Chem (2010) 0.98
Atrioventricular valve development: new perspectives on an old theme. Differentiation (2012) 0.98
Targeted mutation of the MLN64 START domain causes only modest alterations in cellular sterol metabolism. J Biol Chem (2004) 0.98
Parents' decision-making in newborn screening: opinions, choices, and information needs. Pediatrics (2010) 0.97
Functional multimerization of mucolipin channel proteins. J Cell Physiol (2010) 0.97
Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C. Am J Pathol (2011) 0.97
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Hum Mol Genet (2013) 0.96
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration. Hum Mol Genet (2013) 0.96