Enteric nervous system disease in neuronopathic lysosomal storage disorders.
Neural Regen Res. 2026.
PMID: 40817734
No abstract available.
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found by citation matching
Lentiviral vectors for gene transfer to the central nervous system. Applications in lysosomal storage disease animal models.
Methods Mol Med. 2003.
PMID: 12526176
No abstract available.
Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice.
Am J Pathol. 2015.
PMID: 25998250
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nervous system lysosomal storage diseases
(21,806 results)?
Leukodystrophies.
Semin Neurol. 2016 Aug;36(4):362-6. doi: 10.1055/s-0036-1585455. Epub 2016 Sep 19.
Semin Neurol. 2016.
PMID: 27643905
Review.
Leukodystrophies are heritable disorders primarily affecting the white matter of the central nervous system. They are clinically characterized by spasticity, optic atrophy, and ataxia. ...Although individually rare, together they are responsible for substantial d …
Leukodystrophies are heritable disorders primarily affecting the white matter of the central nervous system. They are clinical …
STING mediates lysosomal quality control and recovery through its proton channel function and TFEB activation in lysosomal storage disorders.
Mol Cell. 2025 Apr 17;85(8):1624-1639.e5. doi: 10.1016/j.molcel.2025.03.008. Epub 2025 Apr 3.
Mol Cell. 2025.
PMID: 40185098
Free PMC article.
Defective lysosomes are associated with diseases like lysosomal storage disorders (LSDs). How lysosomal defects are detected and lysosomal function restored remain incompletely understood. ...Furthermore, we show that the STING-TFEB axis facilit …
Defective lysosomes are associated with diseases like lysosomal storage disorders (LSDs). How lysosomal defects …
The leukodystrophies.
Semin Neurol. 2014 Jul;34(3):312-20. doi: 10.1055/s-0034-1386769. Epub 2014 Sep 5.
Semin Neurol. 2014.
PMID: 25192509
Review.
Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system myelin. Leukodystrophies have a reported incidence of 1 in 7500 live births, but fewer than half of patients receive a specific diagnosi …
Leukodystrophies are a group of genetically determined disorders that affect development or maintenance of central nervous system …
Targeting the central nervous system in lysosomal storage diseases: Strategies to deliver therapeutics across the blood-brain barrier.
Mol Ther. 2023 Mar 1;31(3):657-675. doi: 10.1016/j.ymthe.2022.11.015. Epub 2022 Nov 30.
Mol Ther. 2023.
PMID: 36457248
Free PMC article.
Review.
Lysosomal storage diseases (LSDs) are multisystem inherited metabolic disorders caused by dysfunctional lysosomal activity, resulting in the accumulation of undegraded macromolecules in a variety of organs/tissues, including the central nervous …
Lysosomal storage diseases (LSDs) are multisystem inherited metabolic disorders caused by dysfunctional lysosomal …
Lysosomal storage disorders.
Br J Haematol. 2005 Feb;128(4):413-31. doi: 10.1111/j.1365-2141.2004.05293.x.
Br J Haematol. 2005.
PMID: 15686451
Review.
Although the first description of a lysosomal storage disorder was that of Tay-Sachs disease in 1881, the lysosome was not discovered until 1955, by Christian De Duve. ...Significant challenges remain, particularly the treatment of central nervous s …
Although the first description of a lysosomal storage disorder was that of Tay-Sachs disease in 1881, the lysosome was …
From Lysosomal Storage Disorders to Parkinson's Disease - Challenges and Opportunities.
J Mol Biol. 2023 Jun 15;435(12):167932. doi: 10.1016/j.jmb.2022.167932. Epub 2022 Dec 23.
J Mol Biol. 2023.
PMID: 36572237
Free article.
Review.
They harbour numerous different hydrolytic enzymes to degrade substrates like proteins, peptides, and glycolipids. Reduced catalytic activity of lysosomal enzymes can cause the accumulation of these substrates and loss of lysosomal integrity, resulting in lysosom …
They harbour numerous different hydrolytic enzymes to degrade substrates like proteins, peptides, and glycolipids. Reduced catalytic activit …
Neuronopathic lysosomal storage disorders: Approaches to treat the central nervous system.
Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):159-71. doi: 10.1016/j.beem.2014.12.001. Epub 2015 Jan 5.
Best Pract Res Clin Endocrinol Metab. 2015.
PMID: 25987170
Review.
Many of the available therapies, such as enzyme replacement therapy, can reverse the natural history of the disease in peripheral organs but, unfortunately, are still unable to reach the central nervous system effectively because they cannot cross the blood-b …
Many of the available therapies, such as enzyme replacement therapy, can reverse the natural history of the disease in peripheral org …
Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson's Disease.
Int J Mol Sci. 2020 Jul 14;21(14):4966. doi: 10.3390/ijms21144966.
Int J Mol Sci. 2020.
PMID: 32674335
Free PMC article.
Review.
The lysosome has recently attracted the attention of neurobiologists and neurologists since a number of neurological diseases involve a lysosomal component. Among these is Parkinson's disease (PD). While heterozygous and homozygous mutations in GBA1 are the h …
The lysosome has recently attracted the attention of neurobiologists and neurologists since a number of neurological diseases involve …
Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse.
Int J Mol Sci. 2023 Mar 9;24(6):5246. doi: 10.3390/ijms24065246.
Int J Mol Sci. 2023.
PMID: 36982318
Free PMC article.
Review.
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the GLA gene that causes dysfunctional activity of lysosomal hydrolase alpha-galactosidase A and results in the accumulation of globotriaosylceramide (Gb3) and …
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the GLA gene that causes d …
Genetic convergence of Parkinson's disease and lysosomal storage disorders.
Mol Neurobiol. 2015;51(3):1554-68. doi: 10.1007/s12035-014-8832-4. Epub 2014 Aug 7.
Mol Neurobiol. 2015.
PMID: 25099932
Review.
Lysosomal storage disorders are a group of disorders including Gaucher disease, Niemann-Pick disease, and neuronal ceroid lipofuscinoses caused by the defective activity of lysosomal and nonlysosomal proteins. In addition to an overlap in some c …
Lysosomal storage disorders are a group of disorders including Gaucher disease, Niemann-Pick disease, and neuron …
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