Abstract Dihydroceramide desaturase 1 (DEGS1) converts dihydroceramide (dhCer) to
ceramide (Cer) by inserting a C4-C5 trans (∆ 4E) double bond into the sphingoid backbone …

Pelizaeus–Merzbacher Disease (PMD) is an inherited leukodystrophy affecting the central
nervous system (CNS)—a rare disorder that especially concerns males. Its estimated …

The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the
ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute …

Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the
myelin sheath. We have used whole-exome sequencing in patients with undetermined …

Pelizaeus–Merzbacher disease (PMD) is an untreatable and fatal leukodystrophy. In a
model of PMD with perturbed blood–brain barrier integrity, cholesterol supplementation …

The aim of the study was to redefine the phenotype of Allan–Herndon–Dudley syndrome
(AHDS), which is caused by mutations in the SLC 16A2 gene that encodes the brain …

Carbon ion therapy is a promising modality in radiotherapy to treat tumors, however, a
potential risk of induction of late normal tissue damage should still be investigated and …

Oxaliplatin (OXA) is a third-generation platinum compound with clinical activity in multiple
solid tumors. Due to the repetition of chemotherapy cycle, OXA-induced chronic neuropathy …

Introduction: In diabetic nephropathy (DN), mitochondrial dysfunction and leakage of
mitochondrial DNA (mtDNA) are caused by the downregulation of superoxide dismutase 2 …

Transient potential receptor vanilloid 2 (TRPV2) is widely expressed through the nervous
system and specifically found in neuronal subpopulations and some glial cells. TRPV2 is …