Axonal transport and neurological disease

JN Sleigh, AM Rossor, AD Fellows… - Nature Reviews …, 2019 - nature.com
Axonal transport is the process whereby motor proteins actively navigate microtubules to
deliver diverse cargoes, such as organelles, from one end of the axon to the other, and is …

Axonal transport: cargo-specific mechanisms of motility and regulation

S Maday, AE Twelvetrees, AJ Moughamian… - Neuron, 2014 - cell.com
Axonal transport is essential for neuronal function, and many neurodevelopmental and
neurodegenerative diseases result from mutations in the axonal transport machinery …

[HTML][HTML] Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

TL Giudice, F Lombardi, FM Santorelli, T Kawarai… - Experimental …, 2014 - Elsevier
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …

Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success

V Timmerman, AV Strickland, S Züchner - Genes, 2014 - mdpi.com
Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders
affecting the peripheral nervous system. CMT is characterized by a clinically and genetically …

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

J Finsterer, W Löscher, S Quasthoff, J Wanschitz… - Journal of the …, 2012 - Elsevier
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of
neurodegenerative disorders that are clinically characterised by progressive spasticity and …

Cellular pathways of hereditary spastic paraplegia

C Blackstone - Annual review of neuroscience, 2012 - annualreviews.org
Human voluntary movement is controlled by the pyramidal motor system, a long CNS
pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias …

Genetic pain loss disorders

A Lischka, P Lassuthova, A Çakar, CJ Record… - Nature Reviews …, 2022 - nature.com
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …

Anterograde axonal transport in neuronal homeostasis and disease

L Guillaud, SE El-Agamy, M Otsuki… - Frontiers in molecular …, 2020 - frontiersin.org
Neurons are highly polarized cells with an elongated axon that extends far away from the
cell body. To maintain their homeostasis, neurons rely extensively on axonal transport of …

Update on the genetics of spastic paraplegias

M Boutry, S Morais, G Stevanin - Current neurology and neuroscience …, 2019 - Springer
Abstract Purpose of Review Hereditary spastic paraplegias are a genetically heterogeneous
group of neurological disorders. Patients present lower limb weakness and spasticity …

Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting

S Klebe, G Stevanin, C Depienne - Revue neurologique, 2015 - Elsevier
Hereditary spastic paraplegias (HSPs) are genetically determined neurodegenerative
disorders characterized by progressive weakness and spasticity of lower limbs, and are …