Article

Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesis

2020-10-21

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a family of monogenic life-limiting pediatric neurodegenerative disorders collectively known as Batten disease 1 . Although genetically heterogeneous 2 , NCLs share several clinical symptoms and pathological hallmarks such as lysosomal accumulation of lipofuscin and astrogliosis 2,3 . CLN7 disease belongs to a group of NCLs that present in late infancy 4–6 and, whe...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4941d8c5-1f46-5505-af40-70a85e43bfbc
DOI: 10.1101/2020.10.20.345314

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesisDOI 10.1101/2020.10.20.345314Read

Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosisSemantic proximity Read

Emerging new roles of the lysosome and neuronal ceroid lipofuscinosesSemantic proximity Read

Pathomechanisms in the neuronal ceroid lipofuscinoses.Semantic proximity Read

Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease)Semantic proximity Read

Batten disease is linked to altered expression of mitochondria-related metabolic molecules.Semantic proximity Read

The neuronal ceroid-lipofuscinoses: from past to present.Semantic proximity Read

Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview.Semantic proximity Read

CLN7 protein functions at the interface between endolysosomes and stress granules to promote cell survivalSemantic proximity Read

NCL disease mechanisms.Semantic proximity Read

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunctionSemantic proximity Read

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

Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.Semantic proximity Read