(Q38128478)

29 August 2017

Lysosomal storage diseases--the horizon expands (English)

1 reference

29 August 2017

Rose-Mary Naaman Boustany

series ordinal

1

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PubMed ID

23938739

29 August 2017

language of work or name

English

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publication date

13 August 2013

1 reference

29 August 2017

Nature Reviews Neurology

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29 August 2017

9

1 reference

29 August 2017

10

1 reference

29 August 2017

583-598

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https://scigraph.springernature.com/pub.10.1038/nrneurol.2013.163

29 August 2017

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Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities

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Pathogenic cascades in lysosomal disease-Why so complex?

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Retinal degeneration in retinitis pigmentosa and neuronal ceroid lipofuscinosis: An overview

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Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

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Small fiber neuropathy in Fabry disease

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Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy

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Dexmedetomidine premedication for fiberoptic intubation in patients of temporomandibular joint ankylosis: A randomized clinical trial

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Clinical outcome of cerebrospinal fluid shunting for communicating hydrocephalus in mucopolysaccharidoses I, II, and III: a retrospective analysis of 13 patients

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Parkinsonism associated with glucocerebrosidase mutation

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Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

21 January 2018

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Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

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Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene

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Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-Pick disease type C (NPC) fibroblasts: a potential basis for glial cell activat

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21 January 2018

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Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells

21 January 2018

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CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide

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Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis

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Neuronal ceroid lipofuscinosis: a common pathway?

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The cell biology of lysosomal storage disorders

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Annexin A6 is recruited into lipid rafts of Niemann-Pick type C disease fibroblasts in a Ca2+-dependent manner

21 January 2018

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Defective insulin receptor activation and altered lipid rafts in Niemann-Pick type C disease hepatocytes

21 January 2018

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Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport

21 January 2018

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Broad screening test for sphingolipid-storage diseases.

21 January 2018

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CLN3p impacts galactosylceramide transport, raft morphology, and lipid content

21 January 2018

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Cell death pathways in juvenile Batten disease

21 January 2018

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Globoid cell leukodystrophy is a generalized galactosylsphingosine (psychosine) storage disease

21 January 2018

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Inhibition of cytokinesis by a lipid metabolite, psychosine

21 January 2018

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Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death

21 January 2018

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Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation

21 January 2018

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21 January 2018

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Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses

21 January 2018

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

21 January 2018

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The yin and yang of microglia

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Innate and adaptive immune activation in the brain of MPS IIIB mouse model.

21 January 2018

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Immunosuppression alters disease severity in juvenile Batten disease mice

21 January 2018

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Enhanced calcium release in the acute neuronopathic form of Gaucher disease

21 January 2018

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Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons.

21 January 2018

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Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin

21 January 2018

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Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease

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Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

21 January 2018

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Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL.

21 January 2018

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Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons

21 January 2018

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Specific functions of lysosomal proteases in endocytic and autophagic pathways.

21 January 2018

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Self-eating and self-killing: crosstalk between autophagy and apoptosis

21 January 2018

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The peptidases of Trypanosoma cruzi: digestive enzymes, virulence factors, and mediators of autophagy and programmed cell death.

21 January 2018

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Lipid trafficking defects increase Beclin-1 and activate autophagy in Niemann-Pick type C disease

21 January 2018

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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.

21 January 2018

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Therapy for the mucopolysaccharidoses

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Therapeutic approaches for lysosomal storage diseases: a patent update

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Substrate reduction therapy

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Substrate reduction therapy in juvenile GM2 gangliosidosis

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Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

21 January 2018

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Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients

21 January 2018

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Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

21 January 2018

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Design, synthesis, and biological evaluation of enantiomeric beta-N-acetylhexosaminidase inhibitors LABNAc and DABNAc as potential agents against Tay-Sachs and Sandhoff disease.

21 January 2018

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A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysates

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A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation

21 January 2018

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Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

21 January 2018

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Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.

21 January 2018

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Clinical protocol. Administration of a replication-deficient adeno-associated virus gene transfer vector expressing the human CLN2 cDNA to the brain of children with late infantile neuronal ceroid lipofuscinosis

21 January 2018

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Gene therapy for lysosomal storage diseases.

21 January 2018

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Stop-codon read-through for patients affected by a lysosomal storage disorder.

21 January 2018

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Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood

21 January 2018

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Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway.

21 January 2018

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δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders

21 January 2018

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Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

21 January 2018

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

21 January 2018

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Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

21 January 2018

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Brain-penetrating IgG-iduronate 2-sulfatase fusion protein for the mouse

21 January 2018

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Glycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice

21 January 2018

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Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice.

21 January 2018

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Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).

21 January 2018

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Lysosomes and lysosomal cathepsins in cell death

21 January 2018

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Lysosomal storage disorders in the newborn

21 January 2018

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

21 January 2018

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Gemfibrozil and fenofibrate, Food and Drug Administration-approved lipid-lowering drugs, up-regulate tripeptidyl-peptidase 1 in brain cells via peroxisome proliferator-activated receptor α: implications for late infantile Batten disease therapy

21 January 2018

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The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

21 January 2018

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Anti-TNF-alpha therapy enhances the effects of enzyme replacement therapy in rats with mucopolysaccharidosis type VI

21 January 2018

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Mannose-6-phosphate pathway: a review on its role in lysosomal function and dysfunction

21 January 2018

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Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle

21 January 2018

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Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease

21 January 2018

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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

21 January 2018

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Atypical immunologic response in a patient with CRIM-negative Pompe disease

21 January 2018

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Gaucher disease: pathological mechanisms and modern management

21 January 2018

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Enzyme replacement for lysosomal diseases

21 January 2018

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A disrupted homologue of the human CLN3 or juvenile neuronal ceroid lipofuscinosis gene in Saccharomyces cerevisiae: a model to study Batten disease.

21 January 2018

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The yeast model for batten disease: mutations in BTN1, BTN2, and HSP30 alter pH homeostasis

21 January 2018

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Genome Medicine: past, present and future

21 January 2018

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Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

21 January 2018

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Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

21 January 2018

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A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

21 January 2018

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Intracellular protein degradation: from a vague idea thru the lysosome and the ubiquitin-proteasome system and onto human diseases and drug targeting

21 January 2018

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Early clinical symptoms and incidence of aspartylglucosaminuria in Finland

31 March 2020

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High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)

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The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

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Lung disease in Niemann-Pick disease

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Airway obstruction and sleep apnea in Hurler and Hunter syndromes.

31 March 2020

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Targeting macrophages with baculovirus-produced lysosomal enzymes: implications for enzyme replacement therapy of the glycoprotein storage disorder galactosialidosis

31 March 2020

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Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review

31 March 2020

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Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation

31 March 2020

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Imaging findings of mucopolysaccharidoses: a pictorial review

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Storage solutions: treating lysosomal disorders of the brain

31 March 2020

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Selective corticospinal tract involvement in late-onset Krabbe disease

31 March 2020

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GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis

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Upregulation of Bcl-2 and elevation of ceramide in Batten disease

31 March 2020

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Downregulated adaptor protein p66(Shc) mitigates autophagy process by low nutrient and enhances apoptotic resistance in human lung adenocarcinoma A549 cells

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The eIF2α/ATF4 pathway is essential for stress-induced autophagy gene expression

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Lysosomal storage diseases as disorders of autophagy

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Neurological deterioration in late infantile neuronal ceroid lipofuscinosis

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Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation.

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Role of the Crosstalk between Autophagy and Apoptosis in Cancer

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10.1038/NRNEUROL.2013.163

Identifiers

DOI

1 reference

PubMed ID

23938739

Dimensions Publication ID

29 August 2017

0 references

1 reference

PubMed ID

23938739