Pathogenic cascades in lysosomal disease—Why so complex?

[1]  F. Sheth,et al.  Niemann-Pick type C disease. , 2008, Indian pediatrics.

[2]  D. Rakheja,et al.  The function of CLN3P, the Batten disease protein. , 2008, Molecular genetics and metabolism.

[3]  C. Semenkovich,et al.  Lysosomal Dysfunction Results in Altered Energy Balance* , 2007, Journal of Biological Chemistry.

[4]  D. Zeevi,et al.  TRPML and lysosomal function. , 2007, Biochimica et biophysica acta.

[5]  J. Weis,et al.  Endosomal transport of neurotrophins: Roles in signaling and neurodegenerative diseases , 2007, Developmental neurobiology.

[6]  A. Lieberman,et al.  Lipid Trafficking Defects Increase Beclin-1 and Activate Autophagy in Niemann-Pick Type C Disease , 2007, Autophagy.

[7]  Chris J. McBain,et al.  The Role of the GluR2 Subunit in AMPA Receptor Function and Synaptic Plasticity , 2007, Neuron.

[8]  A. Lieberman,et al.  Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. , 2007, Human molecular genetics.

[9]  S. Walkley.  Pathogenic mechanisms in lysosomal disease: a reappraisal of the role of the lysosome , 2007, Acta paediatrica.

[10]  D. Rubinsztein,et al.  Role of autophagy in the clearance of mutant huntingtin: a step towards therapy? , 2006, Molecular aspects of medicine.

[11]  T. Braulke,et al.  Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins. , 2006, Biochimica et biophysica acta.

[12]  M. MacDonald,et al.  Autophagy Is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis* , 2006, Journal of Biological Chemistry.

[13]  Hideyuki Okano,et al.  Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice , 2006, Nature.

[14]  Masaaki Komatsu,et al.  Loss of autophagy in the central nervous system causes neurodegeneration in mice , 2006, Nature.

[15]  Soo Young Park,et al.  Gangliosides trigger inflammatory responses via TLR4 in brain glia. , 2006, The American journal of pathology.

[16]  S. Polo,et al.  Endocytosis Conducts the Cell Signaling Orchestra , 2006, Cell.

[17]  A. Tessitore,et al.  Gangliosides as apoptotic signals in ER stress response , 2006, Cell Death and Differentiation.

[18]  K. Sandhoff,et al.  Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids. , 2005, Annual review of cell and developmental biology.

[19]  C. Howe,et al.  Long-distance retrograde neurotrophic signaling , 2005, Current Opinion in Neurobiology.

[20]  S. Walkley,et al.  Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders , 2004, The Journal of comparative neurology.

[21]  S. Walkley,et al.  Consequences of NPC1 and NPC2 loss of function in mammalian neurons. , 2004, Biochimica et biophysica acta.

[22]  S. Walkley.  Secondary accumulation of gangliosides in lysosomal storage disorders. , 2004, Seminars in cell & developmental biology.

[23]  A. Futerman,et al.  The pathogenesis of glycosphingolipid storage disorders. , 2004, Seminars in cell & developmental biology.

[24]  S. Mellon,et al.  Niemann–Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone , 2004, Nature Medicine.

[25]  S. Walkley,et al.  Lysosomal defects and storage , 2004 .

[26]  S. Walkley.  Pathogenic cascades and brain dysfunction , 2004 .

[27]  S. Walkley,et al.  Lysosomal Disorders of the Brain , 2004 .

[28]  A. Cuervo.  Autophagy: in sickness and in health. , 2004, Trends in cell biology.

[29]  R. Nicoll,et al.  AMPA Receptor Trafficking at Excitatory Synapses , 2003, Neuron.

[30]  Carlo Sala,et al.  Induction of dendritic spines by an extracellular domain of AMPA receptor subunit GluR2 , 2003, Nature.

[31]  M. Gondré-Lewis,et al.  Cholesterol Accumulation in NPC1-Deficient Neurons Is Ganglioside Dependent , 2003, Current Biology.

[32]  R. Schiffmann,et al.  Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? , 2003, Molecular genetics and metabolism.

[33]  S. Walkley.  Neurobiology and cellular pathogenesis of glycolipid storage diseases. , 2003, Philosophical transactions of the Royal Society of London. Series B, Biological sciences.

[34]  L. Riboni,et al.  Salvage pathways in glycosphingolipid metabolism. , 2003, Biochimie.

[35]  E. Ziff,et al.  Receptor trafficking and the plasticity of excitatory synapses , 2002, Current Opinion in Neurobiology.

[36]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[37]  A. McAllister,et al.  Cellular and molecular mechanisms of dendrite growth. , 2000, Cerebral cortex.

[38]  S. Wiseman,et al.  Gangliosides as modulators of dendritogenesis in normal and storage disease-affected pyramidal neurons. , 2000, Cerebral cortex.

[39]  S. Walkley,et al.  Gangliosides as Modulators of Dendritogenesis in Storage Disease-Affected and Normal Pyramidal Neurons , 1999 .

[40]  F. Sherman,et al.  Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p. , 1999, Molecular genetics and metabolism.

[41]  E. Dawidowicz,et al.  The NP-C gene: a key to pathways of intracellular cholesterol transport. , 1994, Trends in cell biology.

[42]  N. Kowall,et al.  Fabry disease: Immunocytochemical characterization of neuronal involvement , 1992, Annals of neurology.

[43]  H. J. Baker,et al.  Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement , 1991, Journal of the Neurological Sciences.

[44]  K. Sandhoff,et al.  Metabolism and intracellular transport of glycosphingolipids. , 1990, Biochemistry.

[45]  Roberto Giugliani,et al.  Inborn Errors of Metabolism , 1989 .

[46]  R. Giugliani,et al.  The mucopolysaccharidoses. , 1976, Journal of medical genetics.

[47]  H. Hers.  INBORN LYSOSOMAL DISEASES. , 1965, Gastroenterology.

[48]  Andrea Ballabio,et al.  A block of autophagy in lysosomal storage disorders. , 2008, Human molecular genetics.

[49]  R. Van Tiggelen,et al.  Gaucher disease , 2019, Haematology.

[50]  R. Desnick,et al.  Toward enzyme therapy for lysosomal storage diseases. , 1976, Physiological reviews.

[51]  H. Hers.  PROGRESS IN GASTROENTEROLOGY INBORN LYSOSOMAL DISEASES , 1965 .

[52]  Mario Roederer,et al.  Induction of dendritic spines by an extracellular domain of AMPA receptor subunit GluR 2 , 2022 .