Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward S, Chakrapani A, Schwering C, Wibbeler E, Westermann L, Ballon D, Dyke J, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J
LANCET NEUROL. 2024;23(1):60-70.

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Di Lorenzo G, Westermann L, Schinke T, Stürznickel J, Ludwig N, Ammer L, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer S, Board T, Foster A, Mercer J, Tylee K, Velho R, Schweizer M, Renné T, Braulke T, Randon D, Sperb-Ludwig F, de Camargo Pinto L, Moreno C, Cavalcanti D, Amling M, Kutsche K, Winter D, Muschol N, Schwartz I, Rolvien T, Danyukova T, Schinke T, Pohl S
GENET MED. 2021;23(12):2369-2377.

Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice
Westermann L, Baranowsky A, Di Lorenzo G, Danyukova T, Soul J, Schwartz J, Hendrickx G, Amling M, Rose-John S, Garbers C, Schinke T, Pohl S
SCI REP-UK. 2021;11(1):3556.

Distinct modes of balancing glomerular cell proteostasis in mucolipidosis type II and III prevent proteinuria
Sachs W, Sachs M, Krüger E, Zielinski S, Kretz O, Huber T, Baranowsky A, Westermann L, Voltolini Velho R, Floriano Ludwig N, Yorgan T, Di Lorenzo G, Kollmann K, Braulke T, Schwartz I, Schinke T, Danyukova T, Pohl S, Meyer-Schwesinger C
J AM SOC NEPHROL. 2020;31(8):1796-1814.

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
Westermann L, Fleischhauer L, Vogel J, Jenei-Lanzl Z, Floriano Ludwig N, Schau L, Morellini F, Baranowsky A, Yorgan T, Di Lorenzo G, Schweizer M, de Souza Pinheiro B, Guarany N, Sperb-Ludwig F, Visioli F, Oliveira Silva T, Soul J, Hendrickx G, Wiegert J, Schwartz I, Clausen-Schaumann H, Zaucke F, Schinke T, Pohl S, Danyukova T
DIS MODEL MECH. 2020;13(11):.

Letzte Aktualisierung aus dem FIS: 30.11.2024 - 03:33 Uhr