Hereditary diseases are caused by mutations in genes, and more than 7,000 rare diseases
affect over 30 million Americans. For more than 30 years, hundreds of researchers have …

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults. They share some similar clinical features and the …

Lysosomes have many roles, including degrading macromolecules and signalling to the
nucleus. Lysosomal dysfunction occurs in various human conditions, such as common …

Rare genetic diseases affect a limited number of patients, but their etiology is often known,
facilitating the development of reliable animal models and giving the opportunity to …

The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a
group of neurological diseases that affect all ages and ethnicities worldwide. There are 13 …

Autophagic dysregulation and lysosomal impairment have been implicated in the
pathogenesis of Parkinson's disease, partly due to the identification of mutations in multiple …

Abstract Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive
disease primarily affecting the nervous system in children. It is caused by a pathogenic …

CLN5 is a soluble endolysosomal protein whose function is poorly understood. Mutations in
this protein cause a rare neurodegenerative disease, neuronal ceroid lipofuscinosis (NCL) …

ABSTRACT PSENEN/PEN2 is the smallest subunit of the γ-secretase complex, an
intramembrane protease that cleaves proteins within their transmembrane domains …

Ceroid lipofuscinosis neuronal (CLN) genes encode 13 proteins that localize throughout the
endomembrane system to regulate a variety of cellular processes. In humans, mutations in …