Genomes and Genes
Affiliation: Molecular Medicine Unit, Institute of Child Health, UCL
Location: London, UK
- The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1Tobias B Huber
Renal Division, University Hospital Freiburg, Hugstetter Str 55, 79106 Freiburg, Germany
J Biol Chem 278:13417-21. 2003..Thus, our data suggest that ZO-1 may organize Neph proteins and recruit signal transduction components to the slit diaphragm of podocytes...
- Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signalingTobias B Huber
Renal Division Molecular Medicine, University Hospital Freiburg, D 79106 Freiburg, Germany
Mol Cell Biol 23:4917-28. 2003....
- Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomainsTobias B Huber
Renal Division, University Hospital Freiburg, Germany
Hum Mol Genet 12:3397-405. 2003..Our findings demonstrate that the failure of mutant podocin to recruit nephrin into lipid rafts may be essential for the pathogenesis of NPHS2...
- Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsNiki Tomas Loges
Department of Paediatrics and Adolescent Medicine, University Hospital 79106 Freiburg, Germany
Am J Hum Genet 85:883-9. 2009..On the basis of these findings, we assume that LRRC50 plays a role in assembly of distinct dynein-arm complexes...
- D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndromeSarah Grünert
Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany
J Pediatr Gastroenterol Nutr 50:106-7. 2010
- CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsAnne Christine Merveille
Unit of Animal Genomics, Groupe Interdisciplinaire de Genomique Appliquee Recherche GIGA R and Faculty of Veterinary Medicine, University of Liège B34, Liege, Belgium
Nat Genet 43:72-8. 2011..Functional analyses indicated that CCDC39 localizes to ciliary axonemes and is essential for assembly of inner dynein arms and the dynein regulatory complex...