White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1

TL;DR: Interactome networks have been postulated by bioinformatics and biological analyses of spastic paraplegia genes, which would contribute to the development of new therapeutic approaches.

TL;DR: The broad use of high-resolution melting analysis is examined, including gene scanning, genotyping, sequence matching and methylation analysis, with a particular focus placed on proper experimental design in order to produce successful results.

TL;DR: This review will provide an update on the advances in the understanding of the molecular biology and mechanistic insights of the regulation of CYP7A1 in bile acid synthesis in the last 40 years.

TL;DR: Ferdinandusse et al. as mentioned in this paper presented a review of peroxisome biogenesis and β-oxidation disorders that affect bile acid synthesis and showed that the most useful screening test for many of these disorders is analysis of urinary cholanoids (bile acids and bile alcohols); this is usually now achieved by electrospray ionisation tandem mass spectrometry.

TL;DR: Genetic testing is progressively more complex and clinical and other information concerning the phenotype is now crucial for choosing an appropriate genetic testing procedure for each patient.

TL;DR: These findings provide the first direct evidence of a pivotal role of altered cholesterol metabolism in the pathogenesis of motor-neuron degenerative disease and identify a potential for therapeutic intervention in this pure form of HSP.

TL;DR: It is proposed that this metabolic pathway that leads to bile acid synthesis from cholesterol serves a regulatory function, and becomes most prominent with the interruption of the enterohepatic circulation of bile acids.

TL;DR: Partial SPAST deletions, but not SPAST amplifications and SPG3A copy number aberrations, represent an underestimated cause of autosomal dominant hereditary spastic paraplegia.