Associated Papers
Tubular ER dysfunction in neurodegenerative diseases.
Sharoar MG et al.
Neurobiology of Disease, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Protrudin-deficient mice manifest depression-like behavior with abnormalities in activity, attention, and cued fear-conditioning.
Shirane M et al.
Molecular Brain, 2020
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
Roles of protrudin at interorganelle membrane contact sites.
Shirane M
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2019
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I.
Hedera P et al.
Brain Sciences, 2018
Medical genomics: The intricate path from genetic variant identification to clinical interpretation.
Quintáns B et al.
Applied & Translational Genomics, 2014
Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia.
Hashimoto Y et al.
The Journal of Biological Chemistry, 2014
Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation.
Chang J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Role of spastin and protrudin in neurite outgrowth.
Zhang C et al.
Journal of Cellular Biochemistry, 2012
The role of ZFYVE27/protrudin in hereditary spastic paraplegia.
Martignoni M et al.
American Journal of Human Genetics, 2008
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.
Mannan AU et al.
American Journal of Human Genetics, 2006
A sex-linked recessive form of spastic paraplegia.
JOHNSTON AW et al.
American Journal of Human Genetics, 1962