[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 …

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 …

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 …

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

S Chear, S Perry, R Wilson, A Bindoff… - Disease Models & …, 2022 - journals.biologists.com
ABSTRACT CLN3 disease is a lysosomal storage disorder associated with fatal
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

RJ Huber, SM Hughes, W Liu, A Morgan… - … et Biophysica Acta (BBA …, 2020 - Elsevier
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 …

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 …

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 …

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 …

Endosomal vesicle fusion machinery is involved with the contractile vacuole in Dictyostelium discoideum

PT Manna, LD Barlow, I Ramirez-Macias… - Journal of Cell …, 2023 - journals.biologists.com
Contractile vacuoles (CVs), enigmatic osmoregulatory organelles, share common
characteristics, such as a requirement for RAB11 and high levels of V-ATPase. These …

Dictyostelium discoideum: A Model System for Neurological Disorders

CL Storey, RSB Williams, PR Fisher, SJ Annesley - Cells, 2022 - mdpi.com
Background: The incidence of neurological disorders is increasing due to population growth
and extended life expectancy. Despite advances in the understanding of these disorders …