AP-4-mediated axonal transport controls endocannabinoid production in neurons
Davies, Alexandra K, Alecu, Julian E, Ziegler, Marvin, Vasilopoulou, Catherine G, Merciai, Fabrizio, Jumo, Hellen, Afshar-Saber, Wardiya, Sahin, Mustafa, Ebrahimi-Fakhari, Darius, Borner, Georg H H
Published in Nature communications (25.02.2022)
Published in Nature communications (25.02.2022)
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High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia
Saffari, Afshin, Brechmann, Barbara, Böger, Cedric, Saber, Wardiya Afshar, Jumo, Hellen, Whye, Dosh, Wood, Delaney, Wahlster, Lara, Alecu, Julian E, Ziegler, Marvin, Scheffold, Marlene, Winden, Kellen, Hubbs, Jed, Buttermore, Elizabeth D, Barrett, Lee, Borner, Georg H H, Davies, Alexandra K, Ebrahimi-Fakhari, Darius, Sahin, Mustafa
Published in Nature communications (17.01.2024)
Published in Nature communications (17.01.2024)
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ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations
Afshar-Saber, Wardiya, Teaney, Nicole A, Winden, Kellen D, Jumo, Hellen, Shi, Xutong, McGinty, Gabrielle, Hubbs, Jed, Chen, Cidi, Tokatly Latzer, Itay, Gasparoli, Federico, Ebrahimi-Fakhari, Darius, Buttermore, Elizabeth D, Roullet, Jean-Baptiste, Pearl, Phillip L, Sahin, Mustafa
Published in Neurobiology of disease (01.01.2024)
Published in Neurobiology of disease (01.01.2024)
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Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)
Eberhardt, Kathrin, Jumo, Hellen, D'Amore, Angelica, Alecu, Julian E., Ziegler, Marvin, Afshar Saber, Wardiya, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Published in Stem cell research (01.05.2021)
Published in Stem cell research (01.05.2021)
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Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis
Alecu, Julian E., Saffari, Afshin, Jumo, Hellen, Ziegler, Marvin, Strelko, Oleksandr, Brownstein, Catherine A., Gonzalez‐Heydrich, Joseph, Rodan, Lance H., Gorman, Mark P., Sahin, Mustafa, Ebrahimi‐Fakhari, Darius
Published in Annals of clinical and translational neurology (01.04.2022)
Published in Annals of clinical and translational neurology (01.04.2022)
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High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
Ebrahimi-Fakhari, Darius, Alecu, Julian E, Brechmann, Barbara, Ziegler, Marvin, Eberhardt, Kathrin, Jumo, Hellen, D’Amore, Angelica, Habibzadeh, Parham, Faghihi, Mohammad Ali, De Bleecker, Jan L, Vuillaumier-Barrot, Sandrine, Auvin, Stéphane, Santorelli, Filippo M, Neuser, Sonja, Popp, Bernt, Yang, Edward, Barrett, Lee, Davies, Alexandra K, Saffari, Afshin, Hirst, Jennifer, Sahin, Mustafa
Published in Brain communications (01.01.2021)
Published in Brain communications (01.01.2021)
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Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis
Alecu, Julian Emanuel, Ohmi, Yuhsuke, Bhuiyan, Robiul H., Inamori, Kei‐ichiro, Nitta, Takahiro, Saffari, Afshin, Jumo, Hellen, Ziegler, Marvin, Gusmao, Claudio Melo, Sharma, Nutan, Ohno, Shiho, Manabe, Noriyoshi, Yamaguchi, Yoshiki, Kambe, Mariko, Furukawa, Keiko, Sahin, Mustafa, Inokuchi, Jin‐ichi, Furakawa, Koichi, Ebrahimi‐Fakhari, Darius
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia
Saffari, Afshin, Brechmann, Barbara, Boeger, Cedric, Saber, Wardiya Afshar, Jumo, Hellen, Whye, Dosh, Wood, Delaney, Wahlster, Lara, Alecu, Julian, Ziegler, Marvin, Scheffold, Marlene, Winden, Kellen, Hubbs, Jed, Buttermore, Elizabeth, Barrett, Lee, Borner, Georg, Davies, Alexandra, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Published in Research square (12.06.2023)
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Published in Research square (12.06.2023)
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