Details

Autor(en) / Beteiligte

• Mele, Caterina
• Iatropoulos, Paraskevas
• Donadelli, Roberta
• Calabria, Andrea
• Maranta, Ramona
• Cassis, Paola
• Buelli, Simona
• Tomasoni, Susanna
• Piras, Rossella
• Krendel, Mira
• Bettoni, Serena
• Morigi, Marina
• Delledonne, Massimo
• Pecoraro, Carmine
• Abbate, Isabella
• Capobianchi, Maria Rosaria
• Hildebrandt, Friedhelm
• Otto, Edgar
• Schaefer, Franz
• Macciardi, Fabio
• Ozaltin, Fatih
• Emre, Sevinc
• Ibsirlioglu, Tulin
• Benigni, Ariela
• Remuzzi, Giuseppe
• Noris, Marina

Titel

MYO1E Mutations and Childhood Familial Focal Segmental Glomerulosclerosis

Ist Teil von

• The New England journal of medicine, 2011-07, Vol.365 (4), p.295-306

Ort / Verlag

Waltham, MA: Massachusetts Medical Society

Erscheinungsjahr

2011

Quelle

MEDLINE

Beschreibungen/Notizen

• Focal segmental glomerulosclerosis (FSGS) affects the podocytes. The molecular cause of over half the cases is unknown, and treatment is elusive. This study identifies two mutations in MYO1E, which encodes the nonmuscle class I myosin. Focal segmental glomerulosclerosis is a kidney lesion characterized by glomerulosclerosis that is focal (involving a subgroup of glomeruli) and segmental (involving a portion of the glomerular tuft). As the disease progresses, the pattern of glomerulosclerosis becomes predominantly global. Alterations of the podocytes, resulting in foot-process effacement, constitute the major ultrastructural abnormality. The pathological classification of focal segmental glomerulosclerosis includes collapsing, tip-lesion, cellular, and perihilar variants, as well as a type known as focal segmental glomerulosclerosis not otherwise specified. 1 Although focal segmental glomerulosclerosis may be a primary disorder, secondary cases have been associated with drug toxicity, viral infections, and diseases that . . .