ceroid lipofuscinosis (neuronal)

'ceroid lipofuscinosis (neuronal)' can also refer to...

ceroid lipofuscinosis (neuronal)

Characterization of Candidate Genes for Neuronal Ceroid Lipofuscinosis in Dog

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

Neuronal ceroid lipofuscinosis with severe biventricular impairment: a rare genetic disorder with associated myopathy?

Immune cells perturb axons and impair neuronal survival in a mouse model of infantile neuronal ceroid lipofuscinosis

The novel Cln1R151X mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy

Tripeptidyl Peptidase I, the Late Infantile Neuronal Ceroid Lipofuscinosis Gene Product, Initiates the Lysosomal Degradation of Subunit c of ATP Synthase

Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

The blood-brain barrier is disrupted in a mouse model of infantile neuronal ceroid lipofuscinosis: amelioration by resveratrol

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models


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abbr.: CLN; any of several progressive myoclonic epilepsies characterized by accumulation of ceroid in the lysosomes of neurons and other cell types. The diseases are distinguished largely by their age ...

Subjects: Chemistry.

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