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

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.

Ultrastructural pathology - 1 Oct 2013

Schweizer Michaela, Markmann Sandra, Braulke Thomas, Kollmann Katrin

Abstract excerpt

The GlcNAc-1-phosphotransferase catalyzes the first step in the formation of mannose 6-phosphate (M6P) residues on lysosomal acid hydrolases that is essential for the efficient transport of newly synthesized lysosomal enzymes to lysosomes and the maintenance of lysosomal functions. Mutations in the GlcNAc-1-phosphotransferase cause the lysosomal storage disease mucolipidosis type II (MLII), resulting in...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellum
Share to Gene Knock-In Techniques
Share to Lectins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lysosomes

Share to Mice, 129 Strain

Share to Mucolipidoses

Share to Retina

Share to Transferases (Other Substituted Phosphate Groups)

Source

Identifiers

PMID: 24047352
DOI: 10.3109/01913123.2013.810687

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice.PMID 24047352Read ↗

A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.Semantic proximity Read ↗

Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations.Semantic proximity Read ↗

Brain cell type specific proteomics approach to discover pathological mechanisms in the childhood CNS disorder mucolipidosis type IVSemantic proximity Read ↗

Comparative pathology of murine mucolipidosis types II and IIIC.Semantic proximity Read ↗

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.Semantic proximity Read ↗

Lysosomal storage causes cellular dysfunction in mucolipidosis II skin fibroblasts.Semantic proximity Read ↗

Cellular and molecular characterization of abnormal brain development in protein o-mannose N-acetylglucosaminyltransferase 1 knockout mice.Semantic proximity Read ↗

Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease.Semantic proximity Read ↗

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in miceSemantic proximity Read ↗

The Lysosomal Sialic Acid Transporter Sialin Is Required for Normal CNS MyelinationSemantic proximity Read ↗

Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport.Semantic proximity Read ↗

Normal lysosomal morphology and function in LAMP-1-deficient mice.Semantic proximity Read ↗

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