Special Issue "Review Papers in Genetic Neuropathies 2023"

A special issue of Neurology International (ISSN 2035-8377).

Deadline for manuscript submissions: 31 December 2023 | Viewed by 643

Special Issue Editors

1. Laboratory of Molecular Neurology, Tokyo University of Pharmacy and Life Sciences, Hachioji, Tokyo 192-0392, Japan
2. Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan
Interests: molecular mechanisms underlying myelination and demyelination; molecular and cellular therapeutic procedures for Charcot–Marie–Tooth diseases; Pelizaeus–Merzbacher disease and hypomyelinating leukodystrophies; frontotemporal dementia
Special Issues, Collections and Topics in MDPI journals
Laboratory of Ion Channel Pathophysiology, Doshisha University Graduate School of Brain Science, Kyotanabe, Kyoto 610-0394, Japan
Interests: molecular mechanisms underlying myelination and demyelination; molecular and cellular therapeutic procedures for Pelizaeus–Merzbacher disease and hypomyelinating leukodystrophies
Special Issues, Collections and Topics in MDPI journals
Division of Structural Biochemistry, Department of Biochemistry, Jichi Medical University, Shimotsuke, Tochigi 329-0498, Japan
Interests: molecular mechanisms underlying Ras-related neuropathies; molecular mechanisms of Ras-related colon and pancreatic carcinogenesis and malignant transformation; molecular mechanisms of glioma carcinogenesis and malignant transformation
Department of Pharmacology, National Research Institute for Child Health and Development, Setagaya, Tokyo 157-8535, Japan
Interests: molecular mechanisms underlying myelination and demyelination; molecular and cellular therapeutic procedures for Charcot–Marie–Tooth diseases; Pelizaeus–Merzbacher disease and hypomyelinating leukodystrophies; frontotemporal dementia
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Significant advances in next-generation nucleic acid sequencing systems have revealed the causes of many neurological disorders and their syndromes due to previously unexpected mutations in protein-encoding genes and non-coding RNAs. In addition, it has been determined familial mutations and fragility mutations in prominent neurological diseases such as Alzheimer’s disease and Parkinson’s disease, as well as tumors derived from ectoderm, cause these diseases or increase the possibility of developing pathological conditions.

This Special Issue aims to collect high-quality review papers in the field of  genetic neuropathies. We encourage researchers from related fields to contribute review papers which explore the latest developments in genetic neuropathies, or to invite relevant experts and colleagues to do so.

Prof. Dr. Junji Yamauchi
Dr. Tomohiro Torii
Dr. Kenji Tago
Dr. Yuki Miyamoto
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Neurology International is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetic mutation
  • hereditary disease
  • neuropathy
  • intracellular and extracellular disease signaling
  • therapeutic target
  • therapeutic procedure
  • neurobiology
  • neurology
  • neuropathology
  • neurophysiology
  • neuropharmacology
  • neurogenetics
  • neuro-oncology
  • aging neuroscience
  • neurotrauma
  • neurogenesis
  • neurotransmitter
  • neuroinflammation
  • neuroendocrine tumor
  • neurodegenerative diseases

Published Papers (1 paper)

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Review

Review
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs)
Neurol. Int. 2023, 15(3), 1155-1173; https://doi.org/10.3390/neurolint15030072 - 11 Sep 2023
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Abstract
Hypomyelinating leukodystrophies (HLDs) represent a group of congenital rare diseases for which the responsible genes have been identified in recent studies. In this review, we briefly describe the genetic/molecular mechanisms underlying the pathogenesis of HLD and the normal cellular functions of the related [...] Read more.
Hypomyelinating leukodystrophies (HLDs) represent a group of congenital rare diseases for which the responsible genes have been identified in recent studies. In this review, we briefly describe the genetic/molecular mechanisms underlying the pathogenesis of HLD and the normal cellular functions of the related genes and proteins. An increasing number of studies have reported genetic mutations that cause protein misfolding, protein dysfunction, and/or mislocalization associated with HLD. Insight into the mechanisms of these pathways can provide new findings for the clinical treatments of HLD. Full article
(This article belongs to the Special Issue Review Papers in Genetic Neuropathies 2023)
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