Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E (S27.002)

Disease Type ◽

Cytoskeletal Organization ◽

Charcot Marie Tooth ◽

Mitochondrial Trafficking ◽

Induced Pluripotent ◽

Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E (IN8-2.001)

Neurology ◽

10.1212/wnl.78.1_meetingabstracts.in8-2.001 ◽

2012 ◽

Vol 78 (Meeting Abstracts 1) ◽

pp. IN8-2.001-IN8-2.001

Author(s):

M. Saporta ◽

D. Volfson ◽

A. Adebola ◽

M. Shy ◽

R. Liem ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Cytoskeletal Organization ◽

Charcot Marie Tooth ◽

Mitochondrial Trafficking ◽

Induced Pluripotent ◽

Abnormal Mitochondrial Trafficking and Cytoskeletal Organization in a Human Induced Pluripotent Stem Cell and a Mouse Model of Charcot-Marie-Tooth Disease Type 2E (IN7-2.001)

Neurology ◽

10.1212/wnl.78.1_meetingabstracts.in7-2.001 ◽

2012 ◽

Vol 78 (Meeting Abstracts 1) ◽

pp. IN7-2.001-IN7-2.001

Author(s):

M. Saporta ◽

D. Volfson ◽

A. Adebola ◽

M. Shy ◽

R. Liem ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Cytoskeletal Organization ◽

Charcot Marie Tooth ◽

Mitochondrial Trafficking ◽

Induced Pluripotent ◽

Generation of induced pluripotent stem cell line, ZJUCHi002-A, from Charcot-Marie-Tooth disease type 2A (CMT2A) patient with a mutation of c.752C>T in MFN2

Stem Cell Research ◽

10.1016/j.scr.2019.101411 ◽

2019 ◽

Vol 36 ◽

pp. 101411

Author(s):

Jiake Xu ◽

Yong Fu ◽

Weichun Xia ◽

Jing He ◽

Yan Zou ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Charcot Marie Tooth ◽

Induced Pluripotent ◽

Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B)

Stem Cell Research ◽

10.1016/j.scr.2017.08.002 ◽

2017 ◽

Vol 24 ◽

pp. 5-7 ◽

Cited By ~ 1

Author(s):

Daryeon Son ◽

Phil Jun Kang ◽

Wonjin Yun ◽

Seungkwon You

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Ipsc Line ◽

Charcot Marie Tooth ◽

Induced Pluripotent ◽

Generation of induced pluripotent stem cell (iPSC) line from a 36-year-old Charcot-Marie-Tooth disease patient with GJB1 mutation (CMTX)

Stem Cell Research ◽

10.1016/j.scr.2017.03.006 ◽

2017 ◽

Vol 21 ◽

pp. 9-12 ◽

Cited By ~ 1

Author(s):

Daryeon Son ◽

Phil Jun Kang ◽

Wonjin Yun ◽

Seungkwon You

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Patient ◽

Ipsc Line ◽

Charcot Marie Tooth ◽

Induced Pluripotent ◽

An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene

Stem Cell Research ◽

10.1016/j.scr.2019.101579 ◽

2019 ◽

Vol 40 ◽

pp. 101579

Author(s):

Yue Li ◽

Haiyan Zhang ◽

Beibei Yan ◽

Yanyan Ma ◽

Xiaomeng Yang ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Compound Heterozygous ◽

Stem Cell Line ◽

Maple Syrup ◽

Urine Disease ◽

Bckdhb Gene ◽

Induced Pluripotent

Rescue of an In Vitro Neuron Phenotype Identified in Niemann-Pick Disease, Type C1 Induced Pluripotent Stem Cell-Derived Neurons by Modulating the WNT Pathway and Calcium Signaling

Stem Cells Translational Medicine ◽

10.5966/sctm.2014-0127 ◽

2015 ◽

Vol 4 (3) ◽

pp. 230-238 ◽

Cited By ~ 23

Author(s):

Anastasia G. Efthymiou ◽

Joe Steiner ◽

William J. Pavan ◽

Stephen Wincovitch ◽

Denise M. Larson ◽

...

Keyword(s):

Stem Cell ◽

Pluripotent Stem Cell ◽

Wnt Pathway ◽

Disease Type ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Induced Pluripotent ◽

Pick Disease

An induced pluripotent stem cell line (TRNDi009-C) from a Niemann-Pick disease type A patient carrying a heterozygous p.L302P (c.905 T>C) mutation in the SMPD1 gene

Stem Cell Research ◽

10.1016/j.scr.2019.101461 ◽

2019 ◽

Vol 38 ◽

pp. 101461 ◽

Cited By ~ 4

Author(s):

Amanda Baskfield ◽

Rong Li ◽

Jeanette Beers ◽

Jizhong Zou ◽

Chengyu Liu ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Disease Type ◽

Stem Cell Line ◽

Niemann Pick Disease ◽

Niemann Pick ◽

Induced Pluripotent ◽

Pick Disease

HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell‐Based Model of Charcot‐Marie‐Tooth Disease (Type 2D)

Advanced Biology ◽

10.1002/adbi.202101308 ◽

2021 ◽

pp. 2101308

Author(s):

Alec S.T. Smith ◽

Jong Hyun Kim ◽

Changho Chun ◽

Ava Gharai ◽

Hyo Won Moon ◽

...

Keyword(s):

Stem Cell ◽

Axonal Transport ◽

Disease Type ◽

Human Stem Cell ◽

Charcot Marie Tooth ◽

Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a

Stem Cell Research ◽

10.1016/j.scr.2020.102095 ◽

2020 ◽

Vol 49 ◽

pp. 102095

Author(s):

Yukimi Katagami ◽

Takayuki Kondo ◽

Mika Suga ◽

Yuichiro Yada ◽

Keiko Imamura ◽

...

Keyword(s):

Stem Cell ◽

Cell Line ◽

Pluripotent Stem Cell ◽

Storage Disease ◽

Glycogen Storage Disease Type ◽

Glycogen Storage ◽

Disease Type ◽

Stem Cell Line ◽

Induced Pluripotent