Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)-Reference-Cited by-同舟云学术

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Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

Published:2019-10 Issue: Volume:40 Page:101575
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Teinert Julian,Behne Robert,D'Amore Angelica,Wimmer Miriam,Dwyer Sean,Chen Teresa,Buttermore Elizabeth D.,Chen Ivy Pin-Fang,Sahin Mustafa^ORCID,Ebrahimi-Fakhari Darius^ORCID

Funder

CureSPG47 Inc

Spastic Paraplegia Foundation (SPF) Inc

Thrasher Research Fund

German National Academic Foundation

University of Würzburg Graduate School of Life Sciences Scholarship

University of Siena “Pegaso Scholarship”

Massachusetts Life Sciences Center

Intellectual and Developmental Disabilities Research Center at Boston Children's Hospital

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference5 articles.

1. Hereditary spastic paraplegia;Blackstone;Handb. Clin. Neurol.,2018

2. AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A;Davies;Nat. Commun.,2018

3. Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome;De Pace;PLoS Genet.,2018

4. Clinical and genetic characterization of AP4B1-associated SPG47;Ebrahimi-Fakhari;Am. J. Med. Genet. A,2018

5. AP-4-Associated hereditary spastic paraplegia;Ebrahimi-Fakhari,2018

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia;Nature Communications;2024-01-17

2. Ap4s1 truncation leads to axonal defects in a zebrafish model of spastic paraplegia 52;International Journal of Developmental Neuroscience;2023-09-28

3. Organelle mapping in dendrites of human iPSC-derived neurons reveals dynamic functional dendritic Golgi structures;Cell Reports;2023-07

4. 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;2023-06-12

5. AP-4-mediated axonal transport controls endocannabinoid production in neurons;Nature Communications;2022-02-25

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