This article investigates litigation in the field of EU market liberalisation from the perspective of legal mobilisation research. It follows the assertion that litigation has seized on asymmetries... Show moreThis article investigates litigation in the field of EU market liberalisation from the perspective of legal mobilisation research. It follows the assertion that litigation has seized on asymmetries in EU law to threaten cornerstones of national industrial relations regimes. The article investigates litigants and their legal counsel in 14 seminal cases. It identifies three distinct types of litigants: narrowly self-interested ‘one-shotters’, organised interests as ‘repeat players’, and ‘cause lawyers’. Key take-aways add to the literatures on both liberalisation and legal mobilisation. The prominence of purposeful, strategic action speaks against previous assertions of a purely self-sustaining logic of market liberalisation, and efforts by trade unions to reinforce national regulations protecting labour speak against the assumption that EU law is only employed by those seeking greater factor mobility. On the other hand, attention to litigants seeking market liberalisation calls into question the notion of law as a ‘weapon of the weak’ often pursued in legal mobilisation research. Show less
Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in... Show moreUrofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in HPSE2, coding for the secreted protein heparanase-2, are described in around half of families genetically studied. Hpse2 mutant mice have aberrant bladder nerves. We sought to expand the genotypic spectrum of UFS and make insights into its pathobiology. Sanger sequencing, next generation sequencing and microarray analysis were performed in four previously unreported families with urinary tract disease and grimacing. In one, the proband had kidney failure and was homozygous for the previously described pathogenic variant c.429T>A, p.(Tyr143*). Three other families each carried a different novel HPSE2 variant. One had homozygous triplication of exons 8 and 9; another had homozygous deletion of exon 4; and another carried a novel c.419C>G variant encoding the missense p.Pro140Arg in trans with c.1099-1G>A, a previously reported pathogenic splice variant. Expressing the missense heparanase-2 variant in vitro showed that it was secreted as normal, suggesting that 140Arg has aberrant functionality after secretion. Bladder autonomic neurons emanate from pelvic ganglia where resident neural cell bodies derive from migrating neural crest cells. We demonstrated that, in normal human embryos, neuronal precursors near the developing hindgut and lower urinary tract were positive for both heparanase-2 and leucine rich repeats and immunoglobulin like domains 2 (LRIG2). Indeed, biallelic variants of LRIG2 have been implicated in rare UFS families. The study expands the genotypic spectrum in HPSE2 in UFS and supports a developmental neuronal pathobiology. Show less
