| Literature DB >> 33602014 |
P Hande Ozdinler1, Mukesh Gautam1, Oge Gozutok1, Csaba Konrad2, Giovanni Manfredi2, Estela Area Gomez3, Hiroshi Mitsumoto3,4, Marcella L Erb5, Zheng Tian6, Georg Haase6,7.
Abstract
Primary lateral sclerosis (PLS) is a rare neurodegenerative disease characterized by progressive degeneration of upper motor neurons (UMNs). Recent studies shed new light onto the cellular events that are particularly important for UMN maintenance including intracellular trafficking, mitochondrial energy homeostasis and lipid metabolism. This review summarizes these advances including the role of Alsin as a gene linked to atypical forms of juvenile PLS, and discusses wider aspects of cellular pathology that have been observed in adult forms of PLS. The review further discusses the prospects of new transgenic upper motor neuron reporter mice, human stem cell-derived UMN cultures, cerebral organoids and non-human primates as future model systems to better understand and ultimately treat PLS.Entities:
Keywords: ALS2; Alsin; Betz cell; Golgi apparatus; bioenergetics; corticospinal motor neuron; endosomes; membrane lipids; mitochondria; primary lateral sclerosis; upper motor neuron
Year: 2020 PMID: 33602014 PMCID: PMC8016556 DOI: 10.1080/21678421.2020.1837175
Source DB: PubMed Journal: Amyotroph Lateral Scler Frontotemporal Degener ISSN: 2167-8421 Impact factor: 4.092