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Special Issue "Advances in Knowledge in Niemann-Pick Disease Type C: Facts and Perspectives"
Deadline for manuscript submissions: 25 February 2020.
Dr. Daniel Ortuño-Sahagún
Instituto de Investigación en Ciencias Biomédicas (IICB), Centro Universitario de Ciencias de las Salud (CUCS), Universidad de Guadalajara, Sierra Mojada No. 950, Col. Independencia, Guadalajara, 44340, Jalisco, Mexico
Interests: Gene Expresion Profiles; Neurodegenerative Diseases; Aging; Neuromodulation; Immunomodulation; Neuroimmune molecular basis; Epigenetics
Niemann–Pick disease Type C (NPC) is an autosomal recessive neurodegenerative disease with a progressive and fatal outcome. Due to its low incidence, it is classified as rare disease, with no effective treatment so far. Today, the denomination designates disorders characterized by unique abnormalities in intracellular cholesterol transport by endocytic trafficking with sequestration of unesterified cholesterol in late endosomes/lysosomes. However, significant advances that led to the elucidation of this disease occurred after the description of the two underlying genes NPC1 and NPC2, with 95% of cases associated to mutations in NPC1.
The disease is mostly diagnosed during childhood and progresses to life-threatening complications early in life; patients typically display cerebellar ataxia, difficulty speaking and swallowing, with progressive dementia. Histopathological hallmarks for NPC include the endosomal/lysosomal system with aberrant cholesterol and glycosphingolipids accumulation. Those are key symptoms and signs for NPC diagnosis and are also easy to follow both clinically and experimentally. However, we are still far from understanding how the loss of NPC1 function leads to signs and to the development of the disease.
This Special Issue is focused on the breakthroughs on NPC knowledge from a molecular point of view up to the therapeutic approach. Not only is basic research in animal models necessary to dissect the role of the NPC1 gene in physiological and pathological conditions, but also applied clinical research is mandatory in order to reach the cutting edge of scientific advances that will finally benefit patients, and the sooner this happens, the better.
Prof. MERCÈ PALLAS LLIBERIA
Dr. Daniel Ortuño-Sahagún
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 papers will be 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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.
- Niemann–Pick C
- Rare diseases
- Lysosomal storage
- Cerebellar degeneration
- Orphan disease