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Special Issue "Molecular and Genetic Mechanism of Cataracts"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 30 April 2021.

Special Issue Editor

Dr. Elena Vallespín
Website
Guest Editor
Molecular Ophthalmology Section, Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain
Interests: ophtalmogenetics; human genetics; next generation sequencing; rare diseases; genomics

Special Issue Information

Dear Colleagues,

Non-syndromic bilateral congenital cataract is the most prevalent cause of reversible congenital blindness worldwide. It is estimated that in approximately 50% of patients suffering from it, it has a genetic origin.

Congenital cataract was the first autosomal disease to be genetically mapped in humans. About one third of isolated congenital cataracts are inherited; most inherited cataracts are autosomal dominant with full penetration, while variable expression, autosomal recessive, and X-linked inheritance patterns are less common. There are more than 100 genes associated with cataract.

The prevalence varies from 2.2 to 2.49 cases out of 10,000 live births in developed countries and about 13.6 out of 10,000 cases in the developing countries of the world.

Despite surgical treatment of congenital cataract, the expected visual acuities are usually low, and most patients require specific visual adaptation.

This Special Issue explores the multidisciplinary approach to the molecular basis of congenital bilaternal cataracts, from bench to beadside, and from molecular and bioinformatic studies using new generation technologies to patient diagnosis.

Dr. Elena Vallespín
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.dlhwdz.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.

Keywords

  • congenital cataracts
  • blindness
  • congenital blindness
  • genomics
  • next-generation sequencing
  • bioinformatics
  • rare diseases

Published Papers (1 paper)

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Research

Open AccessArticle
Molecular Mechanisms of Succinimide Formation from Aspartic Acid Residues Catalyzed by Two Water Molecules in the Aqueous Phase
Int. J. Mol. Sci. 2021, 22(2), 509; https://doi.org/10.3390/ijms22020509 - 06 Jan 2021
Abstract
Aspartic acid (Asp) residues are prone to nonenzymatic isomerization via a succinimide (Suc) intermediate. The formation of isomerized Asp residues is considered to be associated with various age-related diseases, such as cataracts and Alzheimer’s disease. In the present paper, we describe the reaction [...] Read more.
Aspartic acid (Asp) residues are prone to nonenzymatic isomerization via a succinimide (Suc) intermediate. The formation of isomerized Asp residues is considered to be associated with various age-related diseases, such as cataracts and Alzheimer’s disease. In the present paper, we describe the reaction pathway of Suc residue formation from Asp residues catalyzed by two water molecules using the B3LYP/6-31+G(d,p) level of theory. Single-point energies were calculated using the MP2/6-311+G(d,p) level of theory. For these calculations, we used a model compound in which an Asp residue was capped with acetyl and methylamino groups on the N- and C-termini, respectively. In the aqueous phase, Suc residue formation from an Asp residue was roughly divided into three steps, namely, iminolization, cyclization, and dehydration, with the activation energy estimated to be 109 kJ mol−1. Some optimized geometries and reaction modes in the aqueous phase were observed that differed from those in the gas phase. Full article
(This article belongs to the Special Issue Molecular and Genetic Mechanism of Cataracts)
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