共 5 条
Dominant negative effect as a novel mechanism of SPAST gene mutation in a large family with hereditary spastic paraplegia
被引:0
作者:

Deng, Ke
论文数: 0 引用数: 0
h-index: 0
机构:
Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China
Shanghai Key Lab Female Reprod Endocrine Related, Shanghai 200000, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China

Ruan, Haibo
论文数: 0 引用数: 0
h-index: 0
机构:
First Peoples Hosp Wenling, Wenling 317500, Zhejiang, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China

Yu, Feifei
论文数: 0 引用数: 0
h-index: 0
机构:
Rushan Hosp Tradit Chinese Med, Rushan 264599, Shandong, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China

Pei, Zhenle
论文数: 0 引用数: 0
h-index: 0
机构:
Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China
Shanghai Key Lab Female Reprod Endocrine Related, Shanghai 200000, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China

Xu, Congjian
论文数: 0 引用数: 0
h-index: 0
机构:
Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China
Shanghai Key Lab Female Reprod Endocrine Related, Shanghai 200000, Peoples R China
Fudan Univ, Dept Obstet & Gynecol, Shanghai 200000, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China

Zhang, Shuo
论文数: 0 引用数: 0
h-index: 0
机构:
Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China
Shanghai Key Lab Female Reprod Endocrine Related, Shanghai 200000, Peoples R China Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China
机构:
[1] Fudan Univ, Obstet & Gynecol Hosp, Shanghai Ji Ai Genet & IVF Inst, Shanghai 200000, Peoples R China
[2] Shanghai Key Lab Female Reprod Endocrine Related, Shanghai 200000, Peoples R China
[3] First Peoples Hosp Wenling, Wenling 317500, Zhejiang, Peoples R China
[4] Rushan Hosp Tradit Chinese Med, Rushan 264599, Shandong, Peoples R China
[5] Fudan Univ, Dept Obstet & Gynecol, Shanghai 200000, Peoples R China
基金:
中国国家自然科学基金;
关键词:
D O I:
10.1016/j.gendis.2023.1011522352-3042
中图分类号:
Q5 [生物化学];
Q7 [分子生物学];
学科分类号:
071010 ;
081704 ;
摘要:
引用
收藏
页数:4
相关论文
共 5 条
[1]
Hereditary spastic paraplegias: an update
[J].
Depienne, Christel
;
Stevanin, Giovanni
;
Brice, Alexis
;
Durr, Alexandra
.
CURRENT OPINION IN NEUROLOGY,
2007, 20 (06)
:674-680

Depienne, Christel
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, U679, Paris, France

Stevanin, Giovanni
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, U679, Paris, France

Brice, Alexis
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, U679, Paris, France

Durr, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, U679, Paris, France
[2]
Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms
[J].
Julien, Carl
;
Lissouba, Alexandra
;
Madabattula, Surya
;
Fardghassemi, Yasmin
;
Rosenfelt, Cory
;
Androschuk, Alaura
;
Strautman, Joel
;
Wong, Clement
;
Bysice, Andrew
;
O'sullivan, Julia
;
Rouleau, Guy A.
;
Drapeau, Pierre
;
Parker, J. Alex
;
Bolduc, Francois V.
.
HUMAN MOLECULAR GENETICS,
2016, 25 (06)
:1088-1099

Julien, Carl
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, CRCHUM, Montreal, PQ, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Lissouba, Alexandra
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, CRCHUM, Montreal, PQ, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Madabattula, Surya
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Inst Neurosci & Mental Hlth, Edmonton, AB, Canada
Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Fardghassemi, Yasmin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, CRCHUM, Montreal, PQ, Canada
Univ Montreal, Dept Biochem, Montreal, PQ H3C 3J7, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Rosenfelt, Cory
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Androschuk, Alaura
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Strautman, Joel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Inst Neurosci & Mental Hlth, Edmonton, AB, Canada
Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Wong, Clement
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Bysice, Andrew
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

O'sullivan, Julia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Rouleau, Guy A.
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst & Hosp, Montreal, PQ, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

论文数: 引用数:
h-index:
机构:

Parker, J. Alex
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Montreal, CRCHUM, Montreal, PQ, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada

Bolduc, Francois V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Alberta, Inst Neurosci & Mental Hlth, Edmonton, AB, Canada
Univ Alberta, Dept Pediat, Edmonton, AB, Canada Univ Montreal, CRCHUM, Montreal, PQ, Canada
[3]
Tubulin acetylation: responsible enzymes, biological functions and human diseases
[J].
Li, Lin
;
Yang, Xiang-Jiao
.
CELLULAR AND MOLECULAR LIFE SCIENCES,
2015, 72 (22)
:4237-4255

Li, Lin
论文数: 0 引用数: 0
h-index: 0
机构:
Rosalind & Morris Goodman Canc Res Ctr, Montreal, PQ H3A 1A3, Canada
Dept Med, Montreal, PQ H3A 1A3, Canada Rosalind & Morris Goodman Canc Res Ctr, Montreal, PQ H3A 1A3, Canada

Yang, Xiang-Jiao
论文数: 0 引用数: 0
h-index: 0
机构:
Rosalind & Morris Goodman Canc Res Ctr, Montreal, PQ H3A 1A3, Canada
Dept Med, Montreal, PQ H3A 1A3, Canada
McGill Univ, Dept Biochem, Montreal, PQ H3A 1A3, Canada
McGill Univ, Ctr Hlth, Montreal, PQ H3A 1A3, Canada Rosalind & Morris Goodman Canc Res Ctr, Montreal, PQ H3A 1A3, Canada
[4]
Multiparametric rapid screening of neuronal process pathology for drug target identification in HSP patient-specific neurons
[J].
Rehbach, Kristina
;
Kesavan, Jaideep
;
Hauser, Stefan
;
Ritzenhofen, Swetlana
;
Jungverdorben, Johannes
;
Schuele, Rebecca
;
Schoels, Ludger
;
Peitz, Michael
;
Bruestle, Oliver
.
SCIENTIFIC REPORTS,
2019, 9 (1)

Rehbach, Kristina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany
Univ Hosp Bonn, D-53127 Bonn, Germany
LIFE & BRAIN GmbH, Cell Unit, D-53127 Bonn, Germany
Icahn Sch Med Mt Sinai, New York, NY 10029 USA Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany

Kesavan, Jaideep
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany
Univ Hosp Bonn, D-53127 Bonn, Germany Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany

Hauser, Stefan
论文数: 0 引用数: 0
h-index: 0
机构:
German Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany

Ritzenhofen, Swetlana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany
Univ Hosp Bonn, D-53127 Bonn, Germany Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany

Jungverdorben, Johannes
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany
Univ Hosp Bonn, D-53127 Bonn, Germany
German Ctr Neurodegenerat Dis DZNE, D-53175 Bonn, Germany
Mem Sloan Kettering Canc Ctr, New York, NY 10065 USA Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany

Schuele, Rebecca
论文数: 0 引用数: 0
h-index: 0
机构:
German Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany
Univ Tubingen, Dept Neurodegenerat Dis, D-72076 Tubingen, Germany Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany

Schoels, Ludger
论文数: 0 引用数: 0
h-index: 0
机构:
German Ctr Neurodegenerat Dis DZNE, D-72076 Tubingen, Germany
Univ Tubingen, Dept Neurodegenerat Dis, D-72076 Tubingen, Germany Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany

Peitz, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany
Univ Hosp Bonn, D-53127 Bonn, Germany
German Ctr Neurodegenerat Dis DZNE, D-53175 Bonn, Germany Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany

Bruestle, Oliver
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany
Univ Hosp Bonn, D-53127 Bonn, Germany Univ Bonn, Inst Reconstruct Neurobiol, Sch Med, D-53127 Bonn, Germany
[5]
Pathogenic Mutation of Spastin Has Gain-of-Function Effects on Microtubule Dynamics
[J].
Solowska, Joanna M.
;
D'Rozario, Mitchell
;
Jean, Daphney C.
;
Davidson, Michael W.
;
Marenda, Daniel R.
;
Baas, Peter W.
.
JOURNAL OF NEUROSCIENCE,
2014, 34 (05)
:1856-1867

Solowska, Joanna M.
论文数: 0 引用数: 0
h-index: 0
机构:
Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA

D'Rozario, Mitchell
论文数: 0 引用数: 0
h-index: 0
机构:
Drexel Univ, Dept Biol, Philadelphia, PA 19104 USA Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA

Jean, Daphney C.
论文数: 0 引用数: 0
h-index: 0
机构:
Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA

Davidson, Michael W.
论文数: 0 引用数: 0
h-index: 0
机构:
Florida State Univ, Natl High Magnet Field Lab, Tallahassee, FL 32310 USA Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA

Marenda, Daniel R.
论文数: 0 引用数: 0
h-index: 0
机构:
Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA
Drexel Univ, Dept Biol, Philadelphia, PA 19104 USA Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA

Baas, Peter W.
论文数: 0 引用数: 0
h-index: 0
机构:
Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA Drexel Univ, Coll Med, Dept Neurobiol & Anat, Philadelphia, PA 19129 USA