Clarifying lysosomal storage diseases (Q24620532)

Europe PubMed Central

title

Clarifying lysosomal storage diseases (English)

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author name string

Mark L Schultz

1

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Luis Tecedor

2

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Michael Chang

3

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Beverly L Davidson

4

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language of work or name

English

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publication date

August 2011

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published in

Trends in Neurosciences

1 reference

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression

volume

34

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issue

8

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page(s)

401-10

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cites work

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Identification of SNAREs involved in synaptotagmin VII-regulated lysosomal exocytosis

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7 April 2017

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7 April 2017

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7 April 2017

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Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease

7 April 2017

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7 April 2017

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Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

7 April 2017

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Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

7 April 2017

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7 April 2017

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7 April 2017

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27 September 2017

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Genome-wide analysis reveals the vacuolar pH-stat of Saccharomyces cerevisiae

27 September 2017

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Lithium rescues the impaired autophagy process in CbCln3(Δex7/8/Δex7/8) cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition.

27 September 2017

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27 September 2017

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AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival

27 September 2017

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27 September 2017

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Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

27 September 2017

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27 September 2017

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Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease

27 September 2017

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27 September 2017

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27 September 2017

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Deletion of PIK3C3/Vps34 in sensory neurons causes rapid neurodegeneration by disrupting the endosomal but not the autophagic pathway

27 September 2017

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Common and uncommon pathogenic cascades in lysosomal storage diseases

27 September 2017

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27 September 2017

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Characterization of Fabry mice treated with recombinant adeno-associated virus 2/8-mediated gene transfer

27 September 2017

1 reference

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Presynaptic roles of intracellular Ca(2+) stores in signalling and exocytosis.

27 September 2017

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27 September 2017

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Chaperone-mediated autophagy

27 September 2017

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TRP channels of intracellular membranes

27 September 2017

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Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

27 September 2017

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27 September 2017

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Inhibitors of the V0 subunit of the vacuolar H+-ATPase prevent segregation of lysosomal- and secretory-pathway proteins

27 September 2017

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Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

27 September 2017

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Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis

27 September 2017

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The cellular pathways of neuronal autophagy and their implication in neurodegenerative diseases

27 September 2017

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Calcium signaling and neurodegenerative diseases

27 September 2017

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Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

27 September 2017

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27 September 2017

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Sorting of lysosomal proteins

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Chemical chaperone therapy for GM1-gangliosidosis

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

27 September 2017

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Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

27 September 2017

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Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

27 September 2017

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Autophagy and lysosomes in Pompe disease

27 September 2017

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Effective gene therapy in an authentic model of Tay-Sachs-related diseases

27 September 2017

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Gene therapy for lysosomal storage diseases.

27 September 2017

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The v-ATPase V0 subunit a1 is required for a late step in synaptic vesicle exocytosis in Drosophila.

27 September 2017

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Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling

27 September 2017

1 reference

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Controversies in synaptic vesicle exocytosis

27 September 2017

1 reference

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Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis

27 September 2017

1 reference

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Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

27 September 2017

1 reference

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Translational termination efficiency in mammals is influenced by the base following the stop codon.

27 September 2017

1 reference

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Storage vesicles in neurons are related to Golgi complex alterations in mucopolysaccharidosis IIIB.

27 September 2017

1 reference

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Lysosomal positioning coordinates cellular nutrient responses.

27 September 2017

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Vesicular ATPase inserted into the plasma membrane of motor terminals by exocytosis alkalinizes cytosolic pH and facilitates endocytosis

30 May 2018

1 reference

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Lysosomal membrane proteins: life between acid and neutral conditions

30 May 2018

1 reference

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Niemann-Pick type C cells show cholesterol dependent decrease of APP expression at the cell surface and its increased processing through the beta-secretase pathway

30 May 2018

1 reference

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Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells.

30 May 2018

1 reference

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Application of a translational profiling approach for the comparative analysis of CNS cell types

30 May 2018

1 reference

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V-ATPase V0 sector subunit a1 in neurons is a target of calmodulin

30 May 2018

1 reference

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Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue

30 May 2018

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V-ATPase engagement in autophagic processes

30 May 2018

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Sphingolipid storage affects autophagic metabolism of the amyloid precursor protein and promotes Abeta generation.

28 November 2018

1 reference

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Neuronal cell surface ATP synthase mediates synthesis of extracellular ATP and regulation of intracellular pH.

28 November 2018

1 reference

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Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations

28 November 2018

1 reference

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Defects of synaptic vesicle turnover at excitatory and inhibitory synapses in Niemann-Pick C1-deficient neurons

28 November 2018

1 reference

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Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase

28 November 2018

1 reference

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Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs--a proof of principle study.

28 November 2018

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Successful low-risk hematopoietic cell therapy in a mouse model of type 1 Gaucher disease

28 November 2018

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Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

28 November 2018

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Intraventricular enzyme replacement improves disease phenotypes in a mouse model of late infantile neuronal ceroid lipofuscinosis

28 November 2018

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Amyloid precursor protein and amyloid β-peptide bind to ATP synthase and regulate its activity at the surface of neural cells

28 November 2018

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Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes

28 November 2018

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Mitochondrial aberrations in mucolipidosis Type IV.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Lysosomal exocytosis is impaired in mucolipidosis type IV.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Safety of direct administration of AAV2(CU)hCLN2, a candidate treatment for the central nervous system manifestations of late infantile neuronal ceroid lipofuscinosis, to the brain of rats and nonhuman primates

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Functional correction of CNS phenotypes in a lysosomal storage disease model using adeno-associated virus type 4 vectors.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Short-term, high dose enzyme replacement therapy in sialidosis mice

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinoses patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3153126

Neurodegeneration and the neurovascular unit

28 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/21723623

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The neuronal ceroid-lipofuscinoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/21723623

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://pubmed.ncbi.nlm.nih.gov/21723623

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.TINS.2011.05.006

1 reference

913839

913839

1 reference

1 reference

1 reference