Lysosomal Storage Disorders - Catalysis

Relevant Publications

Tandem mass spectrometric enzyme assay for simultaneous detection of Tay-Sachs and Sandhoff diseases in dried blood spots for newborn screening.

Issue Release: 2024

Allele frequency of pathogenic variants causing acid sphingomyelinase deficiency and Gaucher disease in the general Japanese population.

Issue Release: 2024

Caries assessment and salivary microbial analysis in patients diagnosed with mucopolysaccharidosis.

Issue Release: 2024

Inhibition of PIKfyve Leads to Lysosomal Disorders via Dysregulation of mTOR Signaling.

Issue Release: 2024

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.

Issue Release: 2024

Targeting the autophagy-NAD axis protects against cell death in Niemann-Pick type C1 disease models.

Issue Release: 2024

Deep learning-based quantification of osteonecrosis using magnetic resonance images in Gaucher disease.

Issue Release: 2024

Endogenous Protein-Protein Interaction Network of the NPC Cholesterol Transporter 1 in the Cerebral Cortex.

Issue Release: 2024

Cochleovestibular Signs As the First Manifestation of Fabry Disease: A Case Report and Literature Review.

Issue Release: 2024

Inflammation and Exosomes in Fabry Disease Pathogenesis.

Issue Release: 2024

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Issue Release: 2024

Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C.

Issue Release: 2024

A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease.

Issue Release: 2024

Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.

Issue Release: 2024

Engineering Memory T Cells as a platform for Long-Term Enzyme Replacement Therapy in Lysosomal Storage Disorders.

Issue Release: 2024

Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.

Issue Release: 2024

Impact of COVID-19 pandemic on healthcare delivery for lysosomal storage disorders at a tertiary care public hospital in Mumbai.

Issue Release: 2024

Lysosomal storage, impaired autophagy and innate immunity in Gaucher and Parkinson\'s diseases: insights for drug discovery.

Issue Release: 2024

From the regulatory mechanism of TFEB to its therapeutic implications.

Issue Release: 2024

Review on Lysosomal Metal Ion Detection Using Fluorescent Probes.

Issue Release: 2024

What is Insulin?

How Does Wide Blade Design Enhance Catalytic Efficiency?

What is Recombinant DNA Technology?

What are the Challenges in Using NIL for Catalysis?

What is Photocatalytic Degradation?

How Does the Quantum Size Effect Influence Catalysis?

Who are some leading researchers in Catalysis at Tokyo Tech?

How are Vertices Characterized?

How Does High Throughput Experimentation Enhance Catalyst Discovery?

What is Microwave Assisted Catalysis?

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