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Axonal Transport Defect in Gigaxonin Deficiency Rescued by Tubastatin A
Giant axonal neuropathy (GAN) is a disease caused by a deficiency of gigaxonin, a mediator of the degradation of intermediate filament (IF) proteins....
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Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities
Inherited peripheral neuropathies are a genetically and phenotypically diverse group of disorders that lead to degeneration of peripheral neurons...
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Axonal Transport
Axons are long slender cylindrical projections of neurons that enable these cells to communicate directly with other cells in the body over long...
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Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion
Giant axonal neuropathy (GAN) is an autosomal recessive disease caused by mutations in the GAN gene encoding gigaxonin. Patients develop a...
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Protein Pyrrole Adducts in Diabetes Mellitus
Diabetes mellitus is commonly associated with a symmetrical, distal sensory or sensorimotor axonal polyneuropathy that develops insidiously and...
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The functional organization of axonal mRNA transport and translation
Axons extend for tremendously long distances from the neuronal soma and make use of localized mRNA translation to rapidly respond to different...
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AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy
Mutations in the GJB1 gene, encoding the gap junction (GJ) protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease (CMT1X), an...
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Protein Pyrrole Adducts in Diabetes Mellitus
Diabetes mellitus is commonly associated with a symmetrical, distal sensory or sensorimotor axonal polyneuropathy that develops insidiously and...
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Multifaceted Roles of AFG3L2, a Mitochondrial ATPase in Relation to Neurological Disorders
AFG3L2 is a zinc metalloprotease and an ATPase localized in an inner mitochondrial membrane involved in mitochondrial quality control of several...
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An overview of early-onset cerebellar ataxia: a practical guideline
Early onset ataxias (EOAs) are a heterogeneous group of rare neurological disorders that not only involve the central and peripheral nervous system...
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Spectrins: molecular organizers and targets of neurological disorders
Spectrins are cytoskeletal proteins that are expressed ubiquitously in the mammalian nervous system. Pathogenic variants in SPTAN1 , SPTBN1 , SPTBN2 ...
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Advanced Therapy and Clinical Trials to Treat Patients with Optic Nerve Diseases
Optic nerve diseases include a wide variety of pathogenic conditions triggering injury or dysfunction of the optic nerves that lead to visual...
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Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is a treatable, rare autosomal recessively inherited inborn error of the bile acid metabolism, with more than...
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In vivo evaluation of nephrotoxicity and neurotoxicity of colistin formulated with sodium deoxycholate sulfate in a mice model
Neurotoxicity and nephrotoxicity are the major dose-limiting factors for the clinical use of colistin against multidrug-resistant (MDR) Gram-negative...
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A Switch from Glial to Neuronal Gene Expression Alterations in the Spinal Cord of SIV-infected Macaques on Antiretroviral Therapy
Despite antiretroviral therapy (ART), HIV-associated peripheral neuropathy remains one of the most prevalent neurologic manifestations of HIV...
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AAV-based in vivo gene therapy for neurological disorders
Recent advancements in gene supplementation therapy are expanding the options for the treatment of neurological disorders. Among the available...
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ANO10 Function in Health and Disease
Anoctamin 10 (ANO10), also known as TMEM16K, is a transmembrane protein and member of the anoctamin family characterized by functional duality....
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The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population
BackgroundTo investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center...
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Adeno-associated virus vectors and neurotoxicity—lessons from preclinical and human studies
Over 15 years after hepatotoxicity was first observed following administration of an adeno-associated virus (AAV) vector during a hemophilia B...
