Lacritin and other autophagy associated proteins in ocular surface health.
Hyderābād, India. In Exp Eye Res, Mar 2016
Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosis neuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of 'ceroid-lipofuscin' in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration.
The Role of Geranylgeranyltransferase I-Mediated Protein Prenylation in the Brain.
Xuzhou, China. In Mol Neurobiol, Jan 2016
More importantly, we discussed the involvement of GGTI and its substrate GGPP in neurodegenerative disorders, such as aging, Alzheimer's disease, multiple sclerosis, and Niemann-Pick disease type C. The role of FT-FPP and GGTII is mentioned as well to compare with GGTI in these physiological and pathological processes.
Update on the Pharmacotherapy of Cerebellar Ataxia and Nystagmus.
München, Germany. In Cerebellum, Nov 2015
(d) chlorzoxazone in DBN which, however, was so far demonstrated in only one observational study; (e) the modified amino acid acetyl-DL-leucine: evidently effective in cerebellar ataxias, shown in three observational studies, one on patients with Niemann-Pick type C; its mode of action has to be evaluated in animal models and on a cellular/electrophysiological level.
A new player in the puzzle of filovirus entry.
Charlottesville, United States. In Nat Rev Microbiol, 2012
Furthermore, recent studies have identified Niemann-Pick C1 (NPC1), a protein that resides deep in the endocytic pathway, as an important host factor in this process.