Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Autophagy - 1 Jan 2015

Di Fruscio Giuseppina, Schulz Angela, De Cegli Rossella, Savarese Marco, Mutarelli Margherita, Parenti Giancarlo, Banfi Sandro, Braulke Thomas, Nigro Vincenzo, Ballabio Andrea

Abstract excerpt

The autophagy-lysosomal pathway (ALP) regulates cell homeostasis and plays a crucial role in human diseases, such as lysosomal storage disorders (LSDs) and common neurodegenerative diseases. Therefore, the identification of DNA sequence variations in genes involved in this pathway and their association with human diseases would have a significant impact on health. To this aim, we developed Lysoplex, a targeted...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Autophagy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Base Sequence

Share to Homozygote

Share to Lysosomal Storage Diseases

Share to Lysosomes

Share to Neuronal Ceroid-Lipofuscinoses

Source

Open in PubMed Open full text

Identifiers

PMID: 26075876
DOI: 10.1080/15548627.2015.1043077
PMCID: PMC4502703

Genes

NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.PMID 26075876Read ↗

Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex.Semantic proximity Read ↗

Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.Semantic proximity Read ↗

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.Semantic proximity Read ↗

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.Semantic proximity Read ↗

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.Semantic proximity Read ↗

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis.Semantic proximity Read ↗

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disordersSemantic proximity Read ↗

Oncogenic effects of germline mutations in lysosomal storage disease genesSemantic proximity Read ↗

A human lysosomal storage disorder toolkit for decoding proteome landscapes in cortical and dopaminergic-like induced neuronsSemantic proximity Read ↗

Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disordersSemantic proximity Read ↗

Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.Semantic proximity Read ↗

Curated incidence of lysosomal storage diseases from the Taiwan BiobankSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.