Hereditary spastic paraplegia: an update
A Meyyazhagan, A Orlacchio - International Journal of Molecular …, 2022 - mdpi.com
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disorder with the
predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised …
predominant clinical manifestation of spasticity in the lower extremities. HSP is categorised …
The puzzle of hereditary spastic paraplegia: from epidemiology to treatment
A Meyyazhagan, H Kuchi Bhotla… - International Journal of …, 2022 - mdpi.com
Inherited neurodegenerative pathology characterized by lower muscle tone and increasing
spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is …
spasticity in the lower limbs is termed hereditary spastic paraplegia (HSP). HSP is …
Lost in traffic: consequences of altered palmitoylation in neurodegeneration
F Ramzan, F Abrar, GG Mishra, LMQ Liao… - Frontiers in …, 2023 - frontiersin.org
One of the first molecular events in neurodegenerative diseases, regardless of etiology, is
protein mislocalization. Protein mislocalization in neurons is often linked to proteostasis …
protein mislocalization. Protein mislocalization in neurons is often linked to proteostasis …
ER morphology in the pathogenesis of hereditary spastic paraplegia
The endoplasmic reticulum (ER) is the most abundant and widespread organelle in cells. Its
peculiar membrane architecture, formed by an intricate network of tubules and cisternae, is …
peculiar membrane architecture, formed by an intricate network of tubules and cisternae, is …
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases
M Cosottini, G Donatelli, I Ricca, F Bianchi, D Frosini… - European …, 2022 - Springer
Objectives Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative
diseases characterised by upper motor neuron (UMN) impairment of the lower limbs. The …
diseases characterised by upper motor neuron (UMN) impairment of the lower limbs. The …
Autologous iPSC-derived human neuromuscular junction to model the pathophysiology of hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetic
neurodegenerative disorders, characterized by progressive lower limb spasticity and …
neurodegenerative disorders, characterized by progressive lower limb spasticity and …
SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction
L Marrone, PM Marchi, CP Webster… - Human Molecular …, 2022 - academic.oup.com
Hereditary spastic paraplegia type 15 (HSP15) is a neurodegenerative condition caused by
the inability to produce SPG15 protein, which leads to lysosomal swelling. However, the link …
the inability to produce SPG15 protein, which leads to lysosomal swelling. However, the link …
Liver X receptor-agonist treatment rescues degeneration in a Drosophila model of hereditary spastic paraplegia
DJ Byrne, ME Garcia-Pardo, NB Cole… - Acta Neuropathologica …, 2022 - Springer
Hereditary spastic paraplegias (HSPs) are a group of inherited, progressive
neurodegenerative conditions characterised by prominent lower-limb spasticity and …
neurodegenerative conditions characterised by prominent lower-limb spasticity and …
Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
X Yuan, Y Wang, X Li, S Zhong, D Zhou, X Lin… - Journal of Molecular …, 2024 - Springer
Abstract DEAD-box helicase 53 (DDX53) is a member of the DEAD-box protein family of
RNA helicases. Unlike other family members that are responsible for RNA metabolism, the …
RNA helicases. Unlike other family members that are responsible for RNA metabolism, the …
Hereditary spastic paraplegia: Novel insights into the pathogenesis and management
Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder
characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders …
characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders …