Neuronal ceroid lipofuscinoses (NCL) comprise a group of inherited lysosomal disorders
with variable age of onset, characterized by lysosomal accumulation of autofluorescent …

The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared
clinical and pathological features, including seizures and progressive decline in vision …

Neuronal ceroid lipofuscinosis (NCL) comprises∼ 13 genetically distinct lysosomal
disorders primarily affecting the central nervous system. Here we report successful …

Loss-of-function mutations in CLN3 are responsible for juvenile-onset neuronal ceroid
lipofuscinosis (JNCL), or Batten disease, which is an incurable lysosomal disease that …

Neuronal ceroid lipofuscinoses are a group of fatal progressive neurodegenerative diseases
predominantly affecting children. Identification of mutations that cause neuronal ceroid …

Numerous lysosomal enzymes and membrane proteins are essential for the degradation of
proteins, lipids, oligosaccharides, and nucleic acids. The CLN3 gene encodes a lysosomal …

The NCLs (neuronal ceroid lipofuscinosis) are forms of neurodegenerative disease that
affect people of all ages and ethnicities but are most prevalent in children. Commonly known …

Cln3Δex7/8 mice harbor the most common genetic defect causing juvenile neuronal ceroid
lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and …

Mutations in CLN3 cause a juvenile form of neuronal ceroid lipofuscinosis (NCL), commonly
known as Batten disease. Currently, there is no cure for NCL and the mechanisms …

Genome-wide association studies (GWAS) of 10 different cancers have identified pleiotropic
cancer predisposition loci across a region of chromosome 5p15. 33 that includes the TERT …