Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.Wiseman JP, Scarrott JM, Alves-Cruzeiro J, Saffari A, Böger C, Karyka E, Dawes E, Davies AK, Marchi PM, Graves E, Fernandes F, et al.
EMBO molecular medicine (2024) : .
302 304 ICC; tested species: human
Epigenetic modulation through BET bromodomain inhibitors as a novel therapeutic strategy for progranulin-deficient frontotemporal dementia.Rosenthal ZC, Fass DM, Payne NC, She A, Patnaik D, Hennig KM, Tesla R, Werthmann GC, Guhl C, Reis SA, Wang X, et al.
Scientific reports (2024) 141: 9064.
302 304 ICC; tested species: human
The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation.Henis M, Rücker T, Scharrenberg R, Richter M, Baltussen L, Hong S, Meka DP, Schwanke B, Neelagandan N, Daaboul D, Murtaza N, et al.
Science advances (2024) 1015: eadf7001.
302 304 ICC; tested species: mouse
Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.Gorrieri G, Tamburro S, Baldassari S, Guerrisi S, Zara F, Ricci E, Maria Cordelli D, Scudieri P, Musante I
Stem cell research (2024) 76: 103333.
302 304 ICC; tested species: human
Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.Sonsalla G, Malpartida AB, Riedemann T, Gusic M, Rusha E, Bulli G, Najas S, Janjic A, Hersbach BA, Smialowski P, Drukker M, et al.
Neuron (2024) : .
302 304 ICC; tested species: human
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 A, Brechmann B, Böger C, Saber WA, Jumo H, Whye D, Wood D, Wahlster L, Alecu JE, Ziegler M, Scheffold M, et al.
Nature communications (2024) 151: 584.
302 304 ICC; tested species: human
Generation of an induced pluripotent stem cell line (IGGi002A) from nasal cells of a cystic fibrosis patient homozygous for the G542X-CFTR mutation.Dębczyński M, Mojsak D, Tamburro S, Baldassari S, Musante I, Casciaro R, Ciciriello F, Zara F, Scudieri P, Gorrieri G
Stem cell research (2023) 72: 103232.
302 304 ICC; tested species: human
Developmental Pb exposure increases AD risk via altered intracellular Ca2+ homeostasis in hiPSC-derived cortical neurons.Xie J, Wu S, Szadowski H, Min S, Yang Y, Bowman AB, Rochet JC, Freeman JL, Yuan C
The Journal of biological chemistry (2023) : 105023.
302 304 ICC; tested species: human
Metabolic control of adult neural stem cell self-renewal by the mitochondrial protease YME1L.Wani GA, Sprenger HG, Ndoci K, Chandragiri S, Acton RJ, Schatton D, Kochan SMV, Sakthivelu V, Jevtic M, Seeger JM, Müller S, et al.
Cell reports (2022) 387: 110370.
302 304 ICC; tested species: mouse
Centrosome-dependent microtubule modifications set the conditions for axon formation.Meka DP, Kobler O, Hong S, Friedrich CM, Wuesthoff S, Henis M, Schwanke B, Krisp C, Schmuelling N, Rueter R, Ruecker T, et al.
Cell reports (2022) 393: 110686.
302 304 ICC; tested species: rat
AP-4-mediated axonal transport controls endocannabinoid production in neurons.Davies AK, Alecu JE, Ziegler M, Vasilopoulou CG, Merciai F, Jumo H, Afshar-Saber W, Sahin M, Ebrahimi-Fakhari D, Borner GHH
Nature communications (2022) 131: 1058.
302 304 ICC; tested species: mouse
Experimental Platform to Study Spiking Pattern Propagation in Modular Networks In Vitro.Pigareva Y, Gladkov A, Kolpakov V, Mukhina I, Bukatin A, Kazantsev VB, Pimashkin A
Brain sciences (2021) 116: .
302 304 ICC; tested species: mouse
Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development.Gunaseelan S, Wang Z, Tong VKJ, Ming SWS, Razar RBBA, Srimasorn S, Ong WY, Lim KL, Chua JJE
Human molecular genetics (2021) : .
302 304 ICC; tested species: human
Brain-Derived Neurotrophic Factor (BDNF) Preserves the Functional Integrity of Neural Networks in the β-Amyloidopathy Model in vitro.Mitroshina EV, Yarkov RS, Mishchenko TA, Krut' VG, Gavrish MS, Epifanova EA, Babaev AA, Vedunova MV
Frontiers in cell and developmental biology (2020) 8: 582.
302 304 ICC; tested species: mouse
Design of Cultured Neuron Networks in vitro with Predefined Connectivity Using Asymmetric Microfluidic Channels.Gladkov A, Pigareva Y, Kutyina D, Kolpakov V, Bukatin A, Mukhina I, Kazantsev V, Pimashkin A
Scientific reports (2017) 71: 15625.
302 304 ICC; tested species: mouse
Axonal transport and secretion of fibrillar forms of α-synuclein, Aβ42 peptide and HTTExon 1.Brahic M, Bousset L, Bieri G, Melki R, Gitler AD
Acta neuropathologica (2016) 1314: 539-48.
302 304 ICC
Radiology of inflammatory bowel disease.Radiologic clinics of North America (1987) 251: 1-237.
302 304 ICC; tested species: human