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Precision Medicine in Neurodevelopmental Disorders: Challenges and Opportunities
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Precision Medicine in Neurodevelopmental Disorders: Challenges and Opportunities

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Clinical Medicine, Cell, and Organism Physiology".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 488

Special Issue Editors

Prof. Dr. Song-Yu Yang

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Guest Editor
1. Department of Molecular Biology, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
2. Ph.D. Program in Biology-Neuroscience, Graduate Center of the City, University of New York, New York, NY 10016, USA
Interests: pathophysiological mechanism of orphan diseases; 17β-HSD10 deficiency; mental retardation; X-linked; syndromic 10; Alzheimer's disease
Dr. Xue-Ying He

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Guest Editor
Department of Molecular Biology, NYS Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA
Interests: developmental disabilities; metabolic diseases; genetic disorders
Prof. Dr. Manfred Philipp

E-Mail Website
Guest Editor
Biochemistry, The Graduate Center City University of New York CUNY, New York, NY, USA
Interests: beta-lactamases; on a steroid dehydrogenase (HSD10) in the brain; use bioinformatics methods in the study of protein structure and protein-ligand binding

Special Issue Information

Dear Colleagues,

The scientific reports included in this Special Issue show advances in studies on pediatric diseases with intellectual disability. Since Dr. George A. Jervis diagnosed the first case of alkaptonuria in the last century, more than a hundred disorders, such as fragile X, intellectual disability X-linked syndromic 10, and HSD10 deficiency, have been discovered. Major advances in medical science have provided opportunities to prevent such refractory diseases. This Special Issue of Journal of Personalized Medicine, “Precision Medicine in Neurodevelopmental Disorders: Challenges and Opportunities”, will promote the diagnosis and treatment of these diseases, helping patients with developmental disabilities to live richer lives.

Prof. Dr. Song-Yu Yang
Dr. Xue-Ying He
Prof. Dr. Manfred Philipp
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. Journal of Personalized Medicine is an international peer-reviewed open access monthly 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 2600 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

  • intellectual disability
  • inborn metabolic disorders
  • X-linked disorders
  • retarded growth
  • mitochondrial diseases
  • genetic and genomic disorders

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Published Papers (1 paper)

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Review

18 pages, 2892 KiB  
Review
Roles of Type 10 17β-Hydroxysteroid Dehydrogenase in Health and Disease
by Xue-Ying He, Janusz Frackowiak and Song-Yu Yang
J. Pers. Med. 2025, 15(8), 346; https://doi.org/10.3390/jpm15080346 - 1 Aug 2025
Viewed by 295
Abstract
Type 10 17β-hydroxysteroid dehydrogenase (17β-HSD10) is the HSD17B10 gene product. It plays an appreciable part in the carcinogenesis and pathogenesis of neurodegeneration, such as Alzheimer’s disease and infantile neurodegeneration. This mitochondrial, homo-tetrameric protein is a central hub in various metabolic pathways, e.g., branched-chain [...] Read more.
Type 10 17β-hydroxysteroid dehydrogenase (17β-HSD10) is the HSD17B10 gene product. It plays an appreciable part in the carcinogenesis and pathogenesis of neurodegeneration, such as Alzheimer’s disease and infantile neurodegeneration. This mitochondrial, homo-tetrameric protein is a central hub in various metabolic pathways, e.g., branched-chain amino acid degradation and neurosteroid metabolism. It can bind to other proteins carrying out diverse physiological functions, e.g., tRNA maturation. It has also previously been proposed to be an Aβ-binding alcohol dehydrogenase (ABAD) or endoplasmic reticulum-associated Aβ-binding protein (ERAB), although those reports are controversial due to data analyses. For example, the reported km value of some substrate of ABAD/ERAB was five times higher than its natural solubility in the assay employed to measure km. Regarding any reported “one-site competitive inhibition” of ABAD/ERAB by Aβ, the ki value estimations were likely impacted by non-physiological concentrations of 2-octanol at high concentrations of vehicle DMSO and, therefore, are likely artefactual. Certain data associated with ABAD/ERAB were found not reproducible, and multiple experimental approaches were undertaken under non-physiological conditions. In contrast, 17β-HSD10 studies prompted a conclusion that Aβ inhibited 17β-HSD10 activity, thus harming brain cells, replacing a prior supposition that “ABAD” mediates Aβ neurotoxicity. Furthermore, it is critical to find answers to the question as to why elevated levels of 17β-HSD10, in addition to Aβ and phosphorylated Tau, are present in the brains of AD patients and mouse AD models. Addressing this question will likely prompt better approaches to develop treatments for Alzheimer’s disease. Full article
(This article belongs to the Special Issue Precision Medicine in Neurodevelopmental Disorders: Challenges and Opportunities)
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