Publications by authors named "Katharina Khuller"
Article Synopsis
- MFSD2A is a crucial transmembrane transporter that facilitates the uptake of essential fatty acids across the blood-brain barrier (BBB), playing a vital role in embryonic brain development and BBB maintenance.
- Knockout studies in mice demonstrate that loss of MFSD2A leads to BBB leakage, microcephaly, cognitive impairments, and anxiety symptoms.
- Recent findings on individuals with novel MFSD2A mutations highlight a range of severe developmental issues, reinforcing the gene's significance in primary microcephaly and broadening the understanding of its related disorders.
Article Synopsis
- * The research reveals that somatic damaging NIPBL variants are often negatively selected in blood, and indicates a notable 13.1% prevalence of mosaicism among patients with a confirmed molecular diagnosis of CdLS.
- * Most patients with mosaicism exhibit severe symptoms similar to those with stable (constitutive) pathogenic variants, but the types of genetic mutations remain consistent across both types, emphasizing the need for improved clinical management and genetic counseling for affected families.
Mutations of the human valosin-containing protein, p97 (VCP) and Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex genes cause motor neuron and cognitive impairment disorders. Here, we analyzed a cohort of German patients with sporadic amyotrophic lateral sclerosis and frontotemporal lobar degeneration comorbidity (ALS/FTD) for VCP and WASH complex gene mutations. Next-generation panel sequencing of VCP, WASH1, FAM21C, CCDC53, SWIP, strumpellin, F-actin capping protein of muscle Z-line alfa 1 (CAPZA1), and CAPZB genes was performed in 43 sporadic ALS/FTD patients.
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