[HTML][HTML] Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
ES Butz, U Chandrachud, SE Mole… - Biochimica et Biophysica …, 2020 - Elsevier
The neuronal ceroid lipofuscinoses (NCL) are a group of disorders defined by shared
clinical and pathological features, including seizures and progressive decline in vision …
clinical and pathological features, including seizures and progressive decline in vision …
Altered protein secretion in Batten disease
RJ Huber - Disease Models & Mechanisms, 2021 - journals.biologists.com
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 …
group of neurological diseases that affect all ages and ethnicities worldwide. There are 13 …
CLN3, at the crossroads of endocytic trafficking
SL Cotman, S Lefrancois - Neuroscience letters, 2021 - Elsevier
The CLN3 gene was identified over two decades ago, but the primary function of the CLN3
protein remains unknown. Recessive inheritance of loss of function mutations in CLN3 are …
protein remains unknown. Recessive inheritance of loss of function mutations in CLN3 are …
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons
ABSTRACT CLN3 disease is a lysosomal storage disorder associated with fatal
neurodegeneration that is caused by mutations in CLN3, with most affected individuals …
neurodegeneration that is caused by mutations in CLN3, with most affected individuals …
[HTML][HTML] The contribution of multicellular model organisms to neuronal ceroid lipofuscinosis research
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 …
affect people of all ages and ethnicities but are most prevalent in children. Commonly known …
Autophagy in the neuronal ceroid lipofuscinoses (Batten disease)
WD Kim, MLDM Wilson-Smillie… - Frontiers in Cell and …, 2022 - frontiersin.org
The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family
of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At …
of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At …
Aberrant Autophagy Impacts Growth and Multicellular Development in a Dictyostelium Knockout Model of CLN5 Disease
MD McLaren, S Mathavarajah, WD Kim… - Frontiers in Cell and …, 2021 - frontiersin.org
Mutations in CLN5 cause a subtype of neuronal ceroid lipofuscinosis (NCL) called CLN5
disease. While the precise role of CLN5 in NCL pathogenesis is not known, recent work …
disease. While the precise role of CLN5 in NCL pathogenesis is not known, recent work …
Advances in the treatment of neuronal ceroid lipofuscinosis
JB Rosenberg, A Chen, SM Kaminsky… - Expert opinion on …, 2019 - Taylor & Francis
Introduction: Neuronal ceroid lipofuscinoses (NCL) are neurodegenerative lysosomal
storage disorders typically characterized by cognitive and visual impairments, epileptic …
storage disorders typically characterized by cognitive and visual impairments, epileptic …
Endosomal vesicle fusion machinery is involved with the contractile vacuole in Dictyostelium discoideum
Contractile vacuoles (CVs), enigmatic osmoregulatory organelles, share common
characteristics, such as a requirement for RAB11 and high levels of V-ATPase. These …
characteristics, such as a requirement for RAB11 and high levels of V-ATPase. These …
Dictyostelium discoideum: A Model System for Neurological Disorders
Background: The incidence of neurological disorders is increasing due to population growth
and extended life expectancy. Despite advances in the understanding of these disorders …
and extended life expectancy. Despite advances in the understanding of these disorders …