@article {976,
	title = {Beyond the tubule: pathological variants of , encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease.},
	journal = {Am J Physiol Renal Physiol},
	volume = {319},
	year = {2020},
	month = {2020 12 01},
	pages = {F988-F999},
	abstract = {<p>Pathogenic variants in the  gene, encoding the multiligand receptor megalin, cause a rare autosomal recessive syndrome: Donnai-Barrow/Facio-Oculo-Acoustico-Renal (DB/FOAR) syndrome. Because of the rarity of the syndrome, the long-term consequences of the tubulopathy on human renal health have been difficult to ascertain, and the human clinical condition has hitherto been characterized as a benign tubular condition with asymptomatic low-molecular-weight proteinuria. We investigated renal function and morphology in a murine model of DB/FOAR syndrome and in patients with DB/FOAR. We analyzed glomerular filtration rate in mice by FITC-inulin clearance and clinically characterized six families, including nine patients with DB/FOAR and nine family members. Urine samples from patients were analyzed by Western blot analysis and biopsy materials were analyzed by histology. In the mouse model, we used histological methods to assess nephrogenesis and postnatal renal structure and contrast-enhanced magnetic resonance imaging to assess glomerular number. In megalin-deficient mice, we found a lower glomerular filtration rate and an increase in the abundance of injury markers, such as kidney injury molecule-1 and -acetyl-β-d-glucosaminidase. Renal injury was validated in patients, who presented with increased urinary kidney injury molecule-1, classical markers of chronic kidney disease, and glomerular proteinuria early in life. Megalin-deficient mice had normal nephrogenesis, but they had 19\% fewer nephrons in early adulthood and an increased fraction of nephrons with disconnected glomerulotubular junction. In conclusion, megalin dysfunction, as present in DB/FOAR syndrome, confers an increased risk of progression into chronic kidney disease.</p>},
	keywords = {Adolescent, Adult, Animals, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Genetic Variation, Humans, Kidney Glomerulus, Low Density Lipoprotein Receptor-Related Protein-2, Male, Mice, Mice, Knockout, Middle Aged, Renal Insufficiency, Chronic, Young Adult},
	issn = {1522-1466},
	doi = {10.1152/ajprenal.00295.2020},
	author = {Charlton, Jennifer R and Tan, Weizhen and Daouk, Ghaleb and Teot, Lisa and Rosen, Seymour and Bennett, Kevin M and Cwiek, Aleksandra and Nam, Sejin and Emma, Francesco and Jouret, Fran{\c c}ois and Oliveira, Jo{\~a}o Paulo and Tranebj{\ae}rg, Lisbeth and Frykholm, Carina and Mane, Shrikant and Hildebrandt, Friedhelm and Srivastava, Tarak and Storm, Tina and Christensen, Erik Ils{\o} and Nielsen, Rikke}
}
@article {733,
	title = {Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?},
	journal = {Parkinsonism Relat Disord},
	volume = {61},
	year = {2019},
	month = {2019 04},
	pages = {245-247},
	issn = {1873-5126},
	doi = {10.1016/j.parkreldis.2018.10.017},
	author = {Gorcenco, Sorina and Vaz, Fr{\'e}d{\'e}ric M and Tracewska-Siemi{\k a}tkowska, Anna and Tranebj{\ae}rg, Lisbeth and Cremers, Frans P M and Ygland, Emil and Kicsi, Jen{\H o} and Rendtorff, Nanna Dahl and M{\"o}ller, Claes and Kjellstr{\"o}m, Ulrika and Andr{\'e}asson, Sten and Puschmann, Andreas}
}
@article {434,
	title = {An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.},
	journal = {Genes (Basel)},
	volume = {8},
	year = {2017},
	month = {2017 Dec 11},
	abstract = {<p>Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene () was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in  have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease. Herein, we propose that mutations in  underlie another clinical phenotype adding a second variant of the disease, including retinitis pigmentosa and deafness, to the spectrum of -associated disorders.</p>},
	issn = {2073-4425},
	doi = {10.3390/genes8120381},
	author = {Tracewska-Siemi{\k a}tkowska, Anna and Haer-Wigman, Lonneke and Bosch, Dani{\"e}lle G M and Nickerson, Deborah and Bamshad, Michael J and van de Vorst, Maartje and Rendtorff, Nanna Dahl and M{\"o}ller, Claes and Kjellstr{\"o}m, Ulrika and Andr{\'e}asson, Sten and Cremers, Frans P M and Tranebj{\ae}rg, Lisbeth}
}
