M6P Therapeutics to Present at the 17th Annual International Congress on Neuronal Ceroid Lipofuscinosis
Retrieved on:
Friday, October 8, 2021
Health, Clinical Trials, Research, Pharmaceutical, Science, Biotechnology, Linda, Person, Epilepsy, Endocytosis, N, Nervous system, Therapy, LSD, Dementia, CLN3, Plasmid, Endoglycosidase H, Batten disease, A-DNA, Neuronal ceroid lipofuscinosis, CLN2, PNGase F, Glycogen storage disease, Drug development, Lysosome, Mannose, Neuron, Neurodegeneration, Washington University in St. Louis, Eric, M6P, Prevalence, Severe cognitive impairment, NCLS, Enzyme, Communication, International, NCL, Autosome, International Congress on Tuberculosis, Disease, Patient, Enzyme replacement therapy, TPP1, Research, Technology, Phosphorylation, Pharmaceutical industry, Fine chemical
Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative disorder caused by autosomal recessive mutations in the TPP1 gene, leading to the deficiency of TPP1, a lysosomal enzyme.
Key Points:
- Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative disorder caused by autosomal recessive mutations in the TPP1 gene, leading to the deficiency of TPP1, a lysosomal enzyme.
- Batten disease originally referred specifically to the juvenile and most common form of neuronal ceroid lipofuscinosis (NCL), now known as CLN3 .
- Most forms are inherited in an autosomal recessive manner; however, autosomal dominant inheritance has been reported in one adult-onset form (neuronal ceroid lipofuscinosis 4B).
- M6P Therapeutics mission is to translate advanced science into best-in-class therapies that address unmet needs within the LSD community.