Unravelling Molecular and Cellular Disease Mechanisms in Infantile Neuronal Ceroid Lipofuscinosis (INCL)
Year: 2007
Type: article
Abstract: 4 tiivistelma. 5 review of the literature. 6 1. intracellular trafficking 6 1.1 steps of cellular membrane trafficking 6 1.2 endosomes to lysosomes pathways of endocytic transport 6 1.3 pathways of endocytosis, internalization 8 1.4 transport along the endocytic route 11 1.5 membrane trafficking in neurons and synaptic transmission 13 1.6 protein palmitoylation: regulator of function and trafficking 16 2. neuronal maturation 19 2.1 establishment and maintenance of neuronal polarity 19 2.3 calcium metabolism and neuronal maturation 25 2.4 cholesterol metabolism in the developing brain 30 2.5 cell death mechanims in neurons 31 3. cell biology of lysosomal storage disorders 32 3.1 lysosomal storage disorders 32 3.2 lysosomal storage and cellular function 33 3.3 mechanims of lysosomal pathology 35 4. infantile neuronal ceroid lipofuscinosis 37 4.1 neuronal ceroid lipofuscinoses 37 4.2 clinical and neuropathological findings in incl patients 39 4.3 intracellular ceroid-lipofuscin storage in incl 40 4.5 ppt1 protein 42 5. Unravelling the incl disease mechanism 43 5.1 studies in patient tissues and cell models 44 5.2 reproducing the disease, characterization of mouse models 45
Author: Laura Ahtiainen
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W1535666091