Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients

M Mitne-Neto, M Machado-Costa… - Human molecular …, 2011 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) is an incurable neuromuscular disease that leads to a
profound loss of life quality and premature death. Around 10% of the cases are inherited and …

The link between VAPB loss of function and amyotrophic lateral sclerosis

N Borgese, N Iacomino, SF Colombo, F Navone - Cells, 2021 - mdpi.com
The VAP proteins are integral adaptor proteins of the endoplasmic reticulum (ER)
membrane that recruit a myriad of interacting partners to the ER surface. Through these …

A Drosophila Model of ALS: Human ALS-Associated Mutation in VAP33A Suggests a Dominant Negative Mechanism

A Ratnaparkhi, GM Lawless, FE Schweizer… - PloS one, 2008 - journals.plos.org
ALS8 is caused by a dominant mutation in an evolutionarily conserved protein, VAPB
(vesicle-associated membrane protein (VAMP)-associated membrane protein B)/ALS8). We …

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

E Kabashi, H El Oussini, V Bercier… - Human molecular …, 2013 - academic.oup.com
The mutations P56S and T46I in the gene encoding vesicle-associated membrane protein-
associated protein B/C (VAPB) cause ALS8, a familial form of amyotrophic lateral sclerosis …

Induced pluripotent stem cells and their applications in amyotrophic lateral sclerosis

H Du, Z Huo, Y Chen, Z Zhao, F Meng, X Wang, S Liu… - Cells, 2023 - mdpi.com
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that results
in the loss of motor function in the central nervous system (CNS) and ultimately death. The …

A comprehensive library of familial human amyotrophic lateral sclerosis induced pluripotent stem cells

Y Li, U Balasubramanian, D Cohen, PW Zhang… - PloS one, 2015 - journals.plos.org
Amyotrophic lateral sclerosis is a progressive disease characterized by the loss of upper
and lower motor neurons, leading to paralysis of voluntary muscles. About 10% of all ALS …

Induced pluripotent stem cells from ALS patients for disease modeling

JP Richard, NJ Maragakis - Brain research, 2015 - Elsevier
The ability to reprogram adult somatic cells into pluripotent stem cells that can differentiate
into all three germ layers of the developing human has fundamentally changed the …

Drug screening for ALS using patient-specific induced pluripotent stem cells

N Egawa, S Kitaoka, K Tsukita, M Naitoh… - Science translational …, 2012 - science.org
Amyotrophic lateral sclerosis (ALS) is a late-onset, fatal disorder in which the motor neurons
degenerate. The discovery of new drugs for treating ALS has been hampered by a lack of …

A cellular model for sporadic ALS using patient-derived induced pluripotent stem cells

MF Burkhardt, FJ Martinez, S Wright, C Ramos… - Molecular and Cellular …, 2013 - Elsevier
Abstract Development of therapeutics for genetically complex neurodegenerative diseases
such as sporadic amyotrophic lateral sclerosis (ALS) has largely been hampered by lack of …

Modeling ALS with motor neurons derived from human induced pluripotent stem cells

S Sances, LI Bruijn, S Chandran, K Eggan, R Ho… - Nature …, 2016 - nature.com
Directing the differentiation of induced pluripotent stem cells into motor neurons has allowed
investigators to develop new models of amyotrophic lateral sclerosis (ALS). However …