Search Results - "Jumo, Hellen"

S2121 Timing of Glucagon-Like Peptide 1 Receptor Agonists Initiation Post-Bariatric Surgery and its Impact on Weight Loss Outcomes by Micalo, Lavender, Jumo, Hellen, Dzvurumi, Ruvimbo, Shah, Sagar, Villarruel, Elizza E., Bahdi, Firas, Issa, Danny

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S4507 Direct Visualization of Hepatocellular Carcinoma with Complete Bile Duct Invasion Using Peroral Cholangioscopy by Dahoud, Fadi, Villarruel, Elizza E., Jumo, Hellen, Micalo, Lavender, Mcenerney, Laura, Issa, Danny

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AP-4-mediated axonal transport controls endocannabinoid production in neurons by 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.

“…The adaptor protein complex AP-4 mediates anterograde axonal transport and is essential for axon health. AP-4-deficient patients suffer from a severe…”
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S2315 Weight Loss Outcomes of Glucagon-Like Peptide 1 Receptor Agonists in Patients With Sleeve Gastrectomy vs Patients With Intact Stomach by Jumo, Hellen, Micalo, Lavender, Shah, Sagar, Dzvurumi, Ruvimbo, Spivak, Norman, Aldzhyan, Vahagn, Villarruel, Elizza E., Lee, Anna, Bahdi, Firas, Muthusamy, Venkataraman R., Issa, Danny

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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 by 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

“…Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect therapeutic targets for rare diseases. In this study, we developed…”
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ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations by 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

“…Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. SSADHD…”
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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) by Eberhardt, Kathrin, Jumo, Hellen, D'Amore, Angelica, Alecu, Julian E., Ziegler, Marvin, Afshar Saber, Wardiya, Sahin, Mustafa, Ebrahimi-Fakhari, Darius

“…Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47…”
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Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis by 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

“…CAPN1‐associated hereditary spastic paraplegia (SPG76) is a rare and clinically heterogenous syndrome due to loss of calpain‐1 function. Here we illustrate a…”
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High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia by 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

“…Abstract Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1,…”
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Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis by 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

“…Childhood‐onset forms of hereditary spastic paraplegia are ultra‐rare diseases and often present with complex features. Next‐generation‐sequencing allows for…”
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