Polyglutamine spinocerebellar ataxias—from genes to potential treatments
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …
neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3, SCA6 and …
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
A Durr - The Lancet Neurology, 2010 - thelancet.com
Cerebellar ataxias with autosomal dominant transmission are rare, but identification of the
associated genes has provided insight into the mechanisms that could underlie other forms …
associated genes has provided insight into the mechanisms that could underlie other forms …
N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force
C Marras, A Lang, BP van de Warrenburg… - Movement …, 2016 - Wiley Online Library
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …
with a familial disorder has a number of problems when used as a reference list of …
The role of glutamate transporters in neurodegenerative diseases and potential opportunities for intervention
AL Sheldon, MB Robinson - Neurochemistry international, 2007 - Elsevier
Extracellular concentrations of the predominant excitatory neurotransmitter, glutamate, and
related excitatory amino acids are maintained at relatively low levels to ensure an …
related excitatory amino acids are maintained at relatively low levels to ensure an …
Brain pathology of spinocerebellar ataxias
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The …
Excitatory amino acid transporters in physiology and disorders of the central nervous system
AR Malik, TE Willnow - International journal of molecular sciences, 2019 - mdpi.com
Excitatory amino acid transporters (EAATs) encompass a class of five transporters with
distinct expression in neurons and glia of the central nervous system (CNS). EAATs are …
distinct expression in neurons and glia of the central nervous system (CNS). EAATs are …
Transporters for L‐glutamate: An update on their molecular pharmacology and pathological involvement
l‐Glutamate (Glu) is the major excitatory neurotransmitter in the mammalian CNS and five
types of high‐affinity Glu transporters (EAAT1–5) have been identified. The transporters …
types of high‐affinity Glu transporters (EAAT1–5) have been identified. The transporters …
Developmental mechanism of the periodic membrane skeleton in axons
Actin, spectrin, and associated molecules form a periodic sub-membrane lattice structure in
axons. How this membrane skeleton is developed and why it preferentially forms in axons …
axons. How this membrane skeleton is developed and why it preferentially forms in axons …
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
MA Cousin, BA Creighton, KA Breau, RC Spillmann… - Nature …, 2021 - nature.com
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-
scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin …
scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin …
Critical role of spectrin in hearing development and deafness
Inner ear hair cells (HCs) detect sound through the deflection of mechanosensory
stereocilia. Stereocilia are inserted into the cuticular plate of HCs by parallel actin rootlets …
stereocilia. Stereocilia are inserted into the cuticular plate of HCs by parallel actin rootlets …