日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

利用模式生物进行的研究流程有助于深入了解TARS1功能缺失变异体的临床异质性。

Meyer-Schuman, Rebecca; Cale, Allison R; Pierluissi, Jennifer A; Jonatzke, Kira E; Park, Young N; Lenk, Guy M; Oprescu, Stephanie N; Grachtchouk, Marina A; Dlugosz, Andrzej A; Beg, Asim A; Meisler, Miriam H; Antonellis, Anthony

Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c

由于小鼠磷脂酰肌醇生物合成基因 Fig4 和 Pip4k2c 之间的遗传相互作用而导致的表型改变

Cao, Xu; Lenk, Guy M; Meisler, Miriam H

Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.

氯喹可纠正 FIG4 缺失细胞中溶酶体的增大,并减少 FIG4 缺失小鼠的神经退行性变

Lenk Guy M, Meisler Miriam H

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

Scn8a反义寡核苷酸在SCN8A脑病和Dravet综合征小鼠模型中具有保护作用

Lenk, Guy M; Jafar-Nejad, Paymaan; Hill, Sophie F; Huffman, Lucas D; Smolen, Corrine E; Wagnon, Jacy L; Petit, Hayley; Yu, Wenxi; Ziobro, Julie; Bhatia, Kritika; Parent, Jack; Giger, Roman J; Rigo, Frank; Meisler, Miriam H

Cerebral hypomyelination associated with biallelic variants of FIG4

FIG4基因双等位基因变异相关的脑髓鞘形成不足

Lenk, Guy M; Berry, Ian R; Stutterd, Chloe A; Blyth, Moira; Green, Lydia; Vadlamani, Gayatri; Warren, Daniel; Craven, Ian; Fanjul-Fernandez, Miriam; Rodriguez-Casero, Victoria; Lockhart, Paul J; Vanderver, Adeline; Simons, Cas; Gibb, Susan; Sadedin, Simon; White, Susan M; Christodoulou, John; Skibina, Olga; Ruddle, Jonathan; Tan, Tiong Y; Leventer, Richard J; Livingston, John H; Meisler, Miriam H

Correction: The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation (doi:10.1242/jcs.229500)

更正:PIKfyve复合物调节早期黑素体稳态,而早期黑素体稳态是生理性淀粉样蛋白形成所必需的(doi:10.1242/jcs.229500)

Bissig, Christin; Croisé, Pauline; Heiligenstein, Xavier; Hurbain, Ilse; Lenk, Guy M; Kaufman, Emily; Sannerud, Ragna; Annaert, Wim; Meisler, Miriam H; Weisman, Lois S; Raposo, Graça; van Niel, Guillaume

VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation

VAC14基因相关帕金森综合征-肌张力障碍伴深部脑刺激反应

de Gusmao, Claudio M; Stone, Scellig; Waugh, Jeff L; Yang, Edward; Lenk, Guy M; Rodan, Lance H

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

儿童期发病神经系统疾病中VAC14基因的双等位基因突变

Lenk, Guy M; Szymanska, Krystyna; Debska-Vielhaber, Grazyna; Rydzanicz, Malgorzata; Walczak, Anna; Bekiesinska-Figatowska, Monika; Vielhaber, Stefan; Hallmann, Kerstin; Stawinski, Piotr; Buehring, Sonja; Hsu, David A; Kunz, Wolfram S; Meisler, Miriam H; Ploski, Rafal

Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene

利用催化失活的FIG4转基因挽救FIG4基因敲除小鼠的神经退行性变

Lenk, Guy M; Frei, Christen M; Miller, Ashley C; Wallen, Rachel C; Mironova, Yevgeniya A; Giger, Roman J; Meisler, Miriam H

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy

雪旺细胞和运动神经元中 Fig4 的缺失会导致 CMT4J 神经病变。

Vaccari, Ilaria; Carbone, Antonietta; Previtali, Stefano Carlo; Mironova, Yevgeniya A; Alberizzi, Valeria; Noseda, Roberta; Rivellini, Cristina; Bianchi, Francesca; Del Carro, Ubaldo; D'Antonio, Maurizio; Lenk, Guy M; Wrabetz, Lawrence; Giger, Roman J; Meisler, Miriam H; Bolino, Alessandra