You are currently viewing a new version of our website. To view the old version click .

39 Results Found

  • Article
  • Open Access
24 Citations
5,154 Views
14 Pages

Decreased Blood Level of MFSD2a as a Potential Biomarker of Alzheimer’s Disease

  • María Sánchez-Campillo,
  • María José Ruiz-Pastor,
  • Antonio Gázquez,
  • Juan Marín-Muñoz,
  • Fuensanta Noguera-Perea,
  • Antonio J. Ruiz-Alcaraz,
  • Salvadora Manzanares-Sánchez,
  • Carmen Antúnez and
  • Elvira Larqué

The protein Major Facilitator Superfamily Domain containing 2A (MFSD2a) was recently described as the primary carrier for docosahexaenoic acid (DHA) into the brain. Alzheimer’s disease (AD) is a progressive neurodegenerative disorder characteri...

  • Article
  • Open Access
1,475 Views
15 Pages

Brain Pericytes Enhance MFSD2A Expression and Plasma Membrane Localization in Brain Endothelial Cells Through the PDGF-BB/PDGFRβ Signaling Pathway

  • Takuro Iwao,
  • Fuyuko Takata,
  • Hisataka Aridome,
  • Miho Yasunaga,
  • Miki Yokoya,
  • Junko Mizoguchi and
  • Shinya Dohgu

The brain actively obtains nutrients through various transporters on brain microvessel endothelial cells (BMECs). Major facilitator superfamily domain–containing protein 2a (MFSD2A) serves as a key transporter of docosahexaenoic acid (DHA) at t...

  • Article
  • Open Access
5 Citations
3,189 Views
17 Pages

14 September 2023

Cerebral amyloid angiopathy (CAA) is characterized by amyloid β (Aβ) accumulation in the blood vessels and is associated with cognitive impairment in Alzheimer’s disease (AD). The increased accumulation of Aβ is also present in t...

  • Article
  • Open Access
3 Citations
3,875 Views
17 Pages

The Impact of High-Dose Fish Oil Supplementation on Mfsd2a, Aqp4, and Amyloid-β Expression in Retinal Blood Vessels of 5xFAD Alzheimer’s Mouse Model

  • Irena Jovanovic Macura,
  • Desanka Milanovic,
  • Vesna Tesic,
  • Tamara Major,
  • Milka Perovic,
  • Miroslav Adzic and
  • Sanja Ivkovic

29 August 2024

In patients with Alzheimer’s disease (AD) and in animal models, the increased accumulation of amyloid β (Aβ) in retinal blood vessels strongly correlates with brain amyloid deposits and cognitive decline. The accumulation of Aβ i...

  • Article
  • Open Access
14 Citations
15,723 Views
15 Pages

Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies

  • Jocelyn Tanaka,
  • Tosso Leeb,
  • James Rushton,
  • Thomas R. Famula,
  • Maura Mack,
  • Vidhya Jagannathan,
  • Christine Flury,
  • Iris Bachmann,
  • John Eberth and
  • Sue M. McDonnell
  • + 2 authors

19 October 2019

Mushroom is a unique coat color phenotype in Shetland Ponies characterized by the dilution of the chestnut coat color to a sepia tone and is hypothesized to be a recessive trait. A genome wide association study (GWAS), utilizing the Affymetrix 670K a...

  • Article
  • Open Access
10 Citations
3,184 Views
15 Pages

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability

  • Milda Reith,
  • Lena Zeltner,
  • Karin Schäferhoff,
  • Dennis Witt,
  • Theresia Zuleger,
  • Tobias B. Haack,
  • Antje Bornemann,
  • Michael Alber,
  • Susanne Ruf and
  • Ludger Schoels
  • + 2 authors

18 February 2022

Variants in MFSD8 can cause neuronal ceroid lipofuscinoses (NCLs) as well as nonsyndromic retinopathy. The mutation spectrum includes mainly missense and stop variants, but splice sites and frameshift variants have also been reported. To date, appare...

  • Article
  • Open Access
4 Citations
2,933 Views
12 Pages

Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8

  • Domizia Pasquetti,
  • Giuseppe Marangi,
  • Daniela Orteschi,
  • Marina Carapelle,
  • Federica Francesca L’Erario,
  • Romina Venditti,
  • Sabrina Maietta,
  • Domenica Immacolata Battaglia,
  • Ilaria Contaldo and
  • Chiara Veredice
  • + 1 author

17 January 2023

Neuronal ceroid lipofuscinoses (CNL) are lysosomal storage diseases that represent the most common cause of dementia in children. To date, 13 autosomal recessive (AR) and 1 autosomal dominant (AD) gene have been characterized. Biallelic variants in M...

  • Article
  • Open Access
11 Citations
3,193 Views
21 Pages

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

  • Anaïs F. Poncet,
  • Olivier Grunewald,
  • Veronika Vaclavik,
  • Isabelle Meunier,
  • Isabelle Drumare,
  • Valérie Pelletier,
  • Béatrice Bocquet,
  • Margarita G. Todorova,
  • Anne-Gaëlle Le Moing and
  • Aurore Devos
  • + 6 authors

Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygo...

  • Article
  • Open Access
19 Citations
13,877 Views
9 Pages

Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs

  • Benoit Hédan,
  • Edouard Cadieu,
  • Nadine Botherel,
  • Caroline Dufaure de Citres,
  • Anna Letko,
  • Maud Rimbault,
  • Cord Drögemüller,
  • Vidhya Jagannathan,
  • Thomas Derrien and
  • Sheila Schmutz
  • + 2 authors

21 May 2019

White coat color in mammals has been selected several times during the domestication process. Numerous dog breeds are fixed for one form of white coat color that involves darkly pigmented skin. The genetic basis of this color, due to the absence of p...

  • Article
  • Open Access
1 Citations
3,120 Views
34 Pages

13 November 2021

Cellular transport and function are dependent on substrate influx and efflux of various compounds. In humans, the largest superfamily of transporters is the SoLute Carriers (SLCs). Many transporters are orphans and little to nothing is known about th...

  • Article
  • Open Access
19 Citations
5,982 Views
19 Pages

6 September 2018

Long-term fish oil (FO) supplementation is able to improve Alzheimer’s disease (AD) pathology. We aimed to determine the impact of short-term fish oil (FO) intake on phospholipids composition and plaque pathology in 5xFAD mice, a widely used an...

  • Article
  • Open Access
4 Citations
3,244 Views
9 Pages

Screening and Carrier Rate of Neuronal Ceroid Lipofuscinosis in Chihuahua Dogs in Japan

  • Shahnaj Pervin,
  • Md Shafiqul Islam,
  • Naomi Tada,
  • Toshihiko Tsutsui,
  • Mohammad Mahbubur Rahman,
  • Akira Yabuki,
  • Martia Rani Tacharina,
  • Tofazzal Md Rakib,
  • Shinichiro Maki and
  • Osamu Yamato

7 May 2022

Neuronal ceroid lipofuscinosis (NCL) is a group of rare lethal neurodegenerative lysosomal storage diseases that occur in a range of dog breeds, including Chihuahuas. Recently, a homozygous single base-pair deletion (c.846delT), which causes a frame...

  • Article
  • Open Access
22 Citations
7,213 Views
20 Pages

Marine Fish-Derived Lysophosphatidylcholine: Properties, Extraction, Quantification, and Brain Health Application

  • Mirja Kaizer Ahmmed,
  • Mayssa Hachem,
  • Fatema Ahmmed,
  • Ali Rashidinejad,
  • Fatih Oz,
  • Adnan A. Bekhit,
  • Alan Carne and
  • Alaa El-Din A. Bekhit

30 March 2023

Long-chain omega-3 fatty acids esterified in lysophosphatidylcholine (LPC-omega-3) are the most bioavailable omega-3 fatty acid form and are considered important for brain health. Lysophosphatidylcholine is a hydrolyzed phospholipid that is generated...

  • Article
  • Open Access
6 Citations
2,711 Views
12 Pages

Knockdown of Placental Major Facilitator Superfamily Domain Containing 2a in Pregnant Mice Reduces Fetal Brain Growth and Phospholipid Docosahexaenoic Acid Content

  • Theresa L. Powell,
  • Kenneth Barentsen,
  • Owen Vaughan,
  • Charis Uhlson,
  • Karin Zemski Berry,
  • Kathryn Erickson,
  • Kelsey Faer,
  • Stephanie S. Chassen and
  • Thomas Jansson

29 November 2023

Introduction: Docosahexaenoic acid (DHA) is an n-3 long chain polyunsaturated fatty acid critical for fetal brain development that is transported to the fetus from the mother by the placenta. The lysophosphatidylcholine (LPC) transporter, Major Facil...

  • Article
  • Open Access
31 Citations
6,670 Views
16 Pages

12 October 2020

Although decreased retinal docosahexaenoic acid (DHA) is a known risk factor for retinopathy, currently available omega-3 fatty acid supplements, which are absorbed as triacylglycerol (TAG), do not significantly enrich retinal DHA. We tested the hypo...

  • Review
  • Open Access
97 Citations
14,870 Views
25 Pages

25 November 2020

Dietary components are essential for the structural and functional development of the brain. Among these, docosahexaenoic acid, 22:6n-3 (DHA), is critically necessary for the structure and development of the growing fetal brain in utero. DHA is the m...

  • Article
  • Open Access
18 Citations
5,336 Views
17 Pages

Mapping Frozen Ground in the Qilian Mountains in 2004–2019 Using Google Earth Engine Cloud Computing

  • Yuan Qi,
  • Shiwei Li,
  • Youhua Ran,
  • Hongwei Wang,
  • Jichun Wu,
  • Xihong Lian and
  • Dongliang Luo

5 January 2021

The permafrost in the Qilian Mountains (QLMs), the northeastern margin of the Qinghai–Tibet Plateau, changed dramatically in the context of climate warming and increasing anthropogenic activities, which poses significant influences on the stabi...

  • Article
  • Open Access
2 Citations
3,640 Views
14 Pages

25 January 2022

In practical application, facial image recognition is vulnerable to be attacked by photos, videos, etc., while some currently used artificial feature extractors in machine learning, such as activity detection, texture descriptors, and distortion dete...

  • Article
  • Open Access
26 Citations
8,451 Views
14 Pages

Face recognition technology has been widely used due to the convenience it provides. However, face recognition is vulnerable to spoofing attacks which limits its usage in sensitive application areas. This work introduces a novel face anti-spoofing sy...

  • Article
  • Open Access
2 Citations
3,864 Views
15 Pages

Folic Acid and Methyltetrahydrofolate Supplementation in the Mthfr677C>T Mouse Model with Hepatic Steatosis

  • Karen E. Christensen,
  • Marie-Lou Faquette,
  • Daniel Leclerc,
  • Vafa Keser,
  • Yan Luan,
  • Jeanna L. Bennett-Firmin,
  • Olga V. Malysheva,
  • Alaina M. Reagan,
  • Gareth R. Howell and
  • Marie A. Caudill
  • + 2 authors

28 December 2024

Background/Objectives: The MTHFR677C>T gene variant results in a thermolabile MTHFR enzyme associated with elevated plasma homocysteine in TT individuals. Health risks associated with the TT genotype may be modified by dietary and supplemental fol...

  • Article
  • Open Access
19 Citations
5,593 Views
17 Pages

Face Presentation Attack Detection Using Deep Background Subtraction

  • Azeddine Benlamoudi,
  • Salah Eddine Bekhouche,
  • Maarouf Korichi,
  • Khaled Bensid,
  • Abdeldjalil Ouahabi,
  • Abdenour Hadid and
  • Abdelmalik Taleb-Ahmed

15 May 2022

Currently, face recognition technology is the most widely used method for verifying an individual’s identity. Nevertheless, it has increased in popularity, raising concerns about face presentation attacks, in which a photo or video of an author...

  • Article
  • Open Access
6 Citations
2,440 Views
13 Pages

Neurosecretory Protein GL Accelerates Liver Steatosis in Mice Fed Medium-Fat/Medium-Fructose Diet

  • Yuki Narimatsu,
  • Eiko Iwakoshi-Ukena,
  • Mana Naito,
  • Shogo Moriwaki,
  • Megumi Furumitsu and
  • Kazuyoshi Ukena

13 February 2022

Sugar consumption can readily lead to obesity and metabolic diseases such as liver steatosis. We previously demonstrated that a novel hypothalamic neuropeptide, neurosecretory protein GL (NPGL), promotes fat accumulation due to the ingestion of sugar...

  • Article
  • Open Access
12 Citations
3,553 Views
17 Pages

Evidence regarding disparities in oral health among native and immigrant child and adolescent populations in Europe is scarce. The present study aimed to determine the caries status of 5-, 12-, and 15-year-olds with an immigrant background in Greece...

  • Article
  • Open Access
4 Citations
3,625 Views
15 Pages

Preliminary Evidence of the Differential Expression of Human Endogenous Retroviruses in Kawasaki Disease and SARS-CoV-2-Associated Multisystem Inflammatory Syndrome in Children

  • Emanuela Balestrieri,
  • Elena Corinaldesi,
  • Marianna Fabi,
  • Chiara Cipriani,
  • Martina Giudice,
  • Allegra Conti,
  • Antonella Minutolo,
  • Vita Petrone,
  • Marialaura Fanelli and
  • Martino Tony Miele
  • + 11 authors

11 October 2023

Multisystem inflammatory syndrome in children (MIS-C) is a postinfectious sequela of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), with some clinical features overlapping with Kawasaki disease (KD). Our research group and others have...

  • Article
  • Open Access
1,912 Views
15 Pages

Facial Anti-Spoofing Using “Clue Maps”

  • Liang Yu Gong,
  • Xue Jun Li and
  • Peter Han Joo Chong

29 November 2024

Spoofing attacks (or Presentation Attacks) are easily accessible to facial recognition systems, making the online financial system vulnerable. Thus, it is urgent to develop an anti-spoofing solution with superior generalization ability due to the hig...

  • Article
  • Open Access
20 Citations
11,454 Views
12 Pages

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

  • Jiani Yin,
  • Chun-An Chun,
  • Nikolay N. Zavadenko,
  • Natalia L. Pechatnikova,
  • Oxana Yu. Naumova,
  • Harsha V. Doddapaneni,
  • Jianhong Hu,
  • Donna M. Muzny,
  • Christian P. Schaaf and
  • Elena L. Grigorenko

25 July 2020

Approximately 30% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in suc...

  • Article
  • Open Access
9 Citations
4,478 Views
19 Pages

Choline and Fish Oil Can Improve Memory of Mice through Increasing Brain DHA Level

  • Jin Li,
  • Yaqiong Jian,
  • Ruonan Liu,
  • Xianfeng Zhao,
  • Jiangyi Mao,
  • Wei Wei,
  • Chenyu Jiang,
  • Lina Zhang,
  • Yi Wang and
  • Peng Zhou

26 April 2023

Docosahexaenoic acid (DHA) is highly enriched in the brain, and is essential for normal brain development and function. However, evidence suggests that currently used supplements, such as fish oil, do not significantly increase brain DHA levels. Ther...

  • Article
  • Open Access
1 Citations
2,356 Views
15 Pages

15 November 2024

Background: Idiopathic epilepsy (IE) disproportionately affects Belgian shepherd dogs and although genomic risk markers have been identified previously in the breed, causative variants have not been described. Methods: The current study analyzed diff...

  • Review
  • Open Access
10 Citations
4,612 Views
11 Pages

28 October 2022

Docosahexaenoic acid-containing lysophosphatidylcholine (DHA-LysoPC) is presented as the main transporter of DHA from blood plasma to the brain. This is related to the major facilitator superfamily domain-containing protein 2A (Mfsd2a) symporter expr...

  • Article
  • Open Access
14 Citations
2,945 Views
9 Pages

Genome-Wide Association Study of Body Weight Trait in Yaks

  • Jiabo Wang,
  • Xiaowei Li,
  • Wei Peng,
  • Jincheng Zhong and
  • Mingfeng Jiang

21 July 2022

The yak is the largest meat-producing mammal around the Tibetan Plateau, and it plays an important role in the economic development and maintenance of the ecological environment throughout much of the Asian highlands. Understanding the genetic compon...

  • Article
  • Open Access
3 Citations
2,625 Views
14 Pages

28 April 2022

Despite the high performances achieved using deep learning techniques in biometric systems, the inability to rationalise the decisions reached by such approaches is a significant drawback for the usability and security requirements of many applicatio...

  • Review
  • Open Access
7 Citations
3,560 Views
17 Pages

18 April 2024

Treating brain disease is challenging, and the Zika virus (ZIKV) presents a unique obstacle due to its neuroinvasive nature. In this review, we discuss the immunopathogenesis of ZIKV and explore how the virus interacts with the body’s immune re...

  • Article
  • Open Access
1 Citations
1,210 Views
15 Pages

10 December 2024

As one of the most crucial parts of face detection, the accuracy and the generalization of face anti-spoofing are particularly important. Therefore, it is necessary to propose a multi-branch network to improve the accuracy and generalization of the d...

  • Article
  • Open Access
13 Citations
5,628 Views
18 Pages

Characterization of a Primate Blood-Brain Barrier Co-Culture Model Prepared from Primary Brain Endothelial Cells, Pericytes and Astrocytes

  • Daisuke Watanabe,
  • Shinsuke Nakagawa,
  • Yoichi Morofuji,
  • Andrea E. Tóth,
  • Monika Vastag,
  • Jun Aruga,
  • Masami Niwa and
  • Mária A. Deli

Culture models of the blood-brain barrier (BBB) are important research tools. Their role in the preclinical phase of drug development to estimate the permeability for potential neuropharmaceuticals is especially relevant. Since species differences in...

  • Brief Report
  • Open Access
5 Citations
1,912 Views
10 Pages

Exploring the Influence of Growth-Associated Host Genetics on the Initial Gut Microbiota in Horses

  • Jongan Lee,
  • Yong-Jun Kang,
  • Yoo-Kyung Kim,
  • Jae-Young Choi,
  • Sang-Min Shin and
  • Moon-Cheol Shin

27 June 2023

The influences of diet and environmental factors on gut microbial profiles have been widely acknowledged; however, the specific roles of host genetics remain uncertain. To unravel host genetic effects, we raised 47 Jeju crossbred (Jeju × Thorou...

  • Article
  • Open Access
18 Citations
5,501 Views
13 Pages

17 December 2019

Interest in probiotic foods and ingredients is increasing as consumers become more aware of their potential health benefits. The production of these products often involves the use of dry culture powders, and the techniques used to produce such powde...

  • Article
  • Open Access
3 Citations
3,272 Views
12 Pages

30 March 2023

Long chain polyunsaturated fatty acids (LCPUFAs), such as the omega-6 (n-6) arachidonic acid (AA) and n-3 docosahexanoic acid (DHA), have a vital role in normal fetal development and placental function. Optimal supply of these LCPUFAs to the fetus is...

  • Article
  • Open Access
2 Citations
1,884 Views
12 Pages

Face anti-spoofing (FAS) has always been a hidden danger in network security, especially with the widespread application of facial recognition systems. However, some current FAS methods are not effective at detecting different forgery types and are p...

  • Article
  • Open Access
1 Citations
1,935 Views
23 Pages

Fish Oil Supplementation Attenuates Offspring’s Neurodevelopmental Changes Induced by a Maternal High-Fat Diet in a Rat Model

  • Yasna Muñoz,
  • Heidy Kaune,
  • Alexies Dagnino-Subiabre,
  • Gonzalo Cruz,
  • Jorge Toledo,
  • Rodrigo Valenzuela,
  • Renato Moraga,
  • Luis Tabilo,
  • Cristian Flores and
  • Alfredo Muñoz
  • + 3 authors

21 May 2025

Background/Objectives: A maternal high-fat diet (HFD) impairs brain structure in offspring. In turn, fish oil (FO) rich in n-3 polyunsaturated fatty acids (PUFAs) has neuroprotective effects. Therefore, we investigated whether maternal HFD exposure a...