Huntington's disease is the most frequent autosomal dominant neurodegenerative disorder;
however, no disease-modifying interventions are available for patients with this disease. The …

Abstract Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

With advances in genomic sequencing technology, the number of reported gene-disease
relationships has rapidly expanded. However, the evidence supporting these claims varies …

Brain organoids represent a powerful tool for studying human neurological diseases,
particularly those that affect brain growth and structure. However, many diseases manifest …

Background CHD8 (chromodomain helicase DNA-binding protein 8), which codes for a
member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the …

Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder caused by
a CAG trinucleotide expansion in the huntingtin gene (HTT), which codes for the pathologic …

Disease-causing variants in STXBP1 are among the most common genetic causes of
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related …

Dynamic regulation of mRNA translation initiation and elongation is essential for the survival
and function of neural cells. Global reductions in translation initiation resulting from …

Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy
production and storage in several human tissues while also being a precursor for …