The human solute carrier (SLC) transporters are important targets for drug development.
Structure-based drug discovery for SLC transporters requires the description of their …

The solute carrier (SLC) superfamily comprises more than 400 transport proteins mediating
the influx and efflux of substances such as ions, nucleotides, and sugars across biological …

The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …

Solute carriers (SLCs) are the largest family of transmembrane transporters that determine
the exchange of various substances, including nutrients, ions, metabolites, and drugs across …

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting
enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel …

Citrate is best known as an intermediate in the tricarboxylic acid cycle of the cell. In addition
to this essential role in energy metabolism, the tricarboxylate anion also acts as both a …

Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic
heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could …

Citrate is a critical metabolic substrate and key regulator of energy metabolism in
mammalian cells. It has been known for decades that the skeleton contains most (> 85%) of …

Citrate, α-ketoglutarate and succinate are TCA cycle intermediates that also play essential
roles in metabolic signaling and cellular regulation. These di-and tricarboxylates are …

Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and
seizure control is often difficult. Identification of the underlying etiology in this patient group is …