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 …

Alzheimer's disease (AD) is one of the leading causes of dementia, and its prevalence is
expected to increase dramatically due to the aging global population. Microglia-driven …

The neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of
progressive neurodegenerative disorders characterized by the accumulation of …

Juvenile-onset neuronal ceroid lipofuscinosis (JNCL; Batten disease) features hallmark
membrane deposits and loss of central nervous system (CNS) neurons. Most cases of the …

Batten disease, a degenerative neurological disorder with juvenile onset, is the most
common form of the neuronal ceroid lipofuscinoses. Mutations in the CLN3 gene cause …

Children with neurodegenerative disease often have debilitating gastrointestinal symptoms.
We hypothesized that this may be due at least in part to underappreciated degeneration of …

Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to
the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis …

The neuronal ceroid lipofuscinoses (NCLs) comprise a set of at least 6 distinct human and
an unknown number of animal diseases characterized by storage of proteolipids in …

Cloning of the individual genes that are mutated in neuronal cerold lipofuscinoses (NCLs),
or Batten disease, has opened up new avenues of research into the pathogenesis of these …

The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are a group of fatal recessively
inherited neurodegenerative diseases of humans and animals characterised by common …