 | Up a level |
Journal Article
Hochheiser, Inga, V, Behrmann, Heide, Hagelueken, Gregor 
ORCID: 0000-0001-8781-5664, Rodriguez-Alcazar, Juan F., Kopp, Anja ORCID: 0000-0001-5484-7109, Latz, Eicke, Behrmann, Elmar ORCID: 0000-0001-6794-3669 and Geyer, Matthias ORCID: 0000-0002-7718-5002
(2022).
Directionality of PYD filament growth determined by the transition of NLRP3 nucleation seeds to ASC elongation.
Sci. Adv., 8 (19).
WASHINGTON:
AMER ASSOC ADVANCEMENT SCIENCE.
ISSN 2375-2548
Cesarato, Nicole, Wehner, Maria, Ghughunishvili, Mariam, Schmidt, Axel, Axt, Daisy, Thiele, Holger, Lentze, Michael J., Has, Cristina ORCID: 0000-0001-6066-507X, Geyer, Matthias ORCID: 0000-0002-7718-5002, Basmanav, Fitnat Buket and Betz, Regina C.
(2021).
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.
Am. J. Med. Genet. A, 185 (12).
S. 3900 - 3905.
HOBOKEN:
WILEY.
ISSN 1552-4833
Woeste, Marina A., Stern, Sina, Raju, Diana N., Grahn, Elena, Dittmann, Dominik, Gutbrod, Katharina, Doermann, Peter, Hansen, Jan N., Schonauer, Sophie, Marx, Carina E., Hamzeh, Hussein, Koerschen, Heinz G., Aerts, Johannes M. F. G., Boenigk, Wolfgang, Endepols, Heike ORCID: 0000-0002-6166-4818, Sandhoff, Roger, Geyer, Matthias ORCID: 0000-0002-7718-5002, Berger, Thomas K., Bradke, Frank ORCID: 0000-0002-0345-3772 and Wachten, Dagmar
(2019).
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.
J. Biol. Chem., 294 (11).
S. 3853 - 3872.
ROCKVILLE:
AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC.
ISSN 1083-351X
Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander ORCID: 0000-0002-2131-4581, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Ellwanger, Juergen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Luetjohann, Dieter, Frank, Jorge, Geyer, Matthias ORCID: 0000-0002-7718-5002, Bertolini, Marta ORCID: 0000-0002-5927-6998, Kokordelis, Pavlos and Betz, Regina C.
(2018).
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Am. J. Hum. Genet., 103 (5).
S. 777 - 786.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605