Results 11 to 20 of about 133 (131)

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Bioimaging of sense organs and the central nervous system in extant fishes and reptiles in situ: A review

The Anatomical Record, EarlyView.
Bioimaging of the sense organs and brain of fishes and reptiles. Left panel: 3D reconstruction of the head and brain of the deep‐sea viperfish Chauliodus sloani following diceCT. Right panel: A 3D reconstruction of a 70‐day‐old embryo head of the bearded dragon Pogona vitticeps following diceCT, showing the position of the segmented brain within the ...
Shaun P. Collin, Kara E. Yopak, Jenna M. Crowe‐Riddell, Victoria Camilieri‐Asch, Caroline C. Kerr, Hope Robins, Myoung Hoon Ha, Annalise Ceddia, Travis L. Dutka, Lucille Chapuis   +9 more
wiley   +1 more source

High Sensitivity L‐Cysteine Indium Telluriselenide Quantum Dot‐Inspired Aptasensor for Interferon Gamma TB Biomarker

ChemElectroChem, EarlyView.
An electrochemical interferon‐gamma (IFN‐γ) aptasensor is developed with L‐cysteine‐indium telluriselenide quantum dot (QD) and 24 mer guanine‐thymine DNA aptamer. The aptasensor exhibits high sensitivity in buffer and human serum samples. From calibration analysis, the limit of detection of the aptasensor is 0.312 pg mL−1 IFN‐γ, which indicates good ...
Kaylin Cleo Januarie, Usisipho Feleni, Candice Cupido, Nelia Abraham Sanga, Rachel Fanelwa Ajayi, Emmanuel Iheanyichukwu Iwuoha, Marlon Oranzie, Jaymi Leigh January, Zandile Dennis Leve   +8 more
wiley   +1 more source

Manganese Neurotoxicity and Familial Disorders of Manganese Transport

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Manganese is the 12th most common element in the Earth's crust and is an essential industrial component. Biologically, this metal plays an important role as a constituent of numerous enzymes. While manganese is required for normal biochemical and physiological processes, manganese excess can lead to significant toxicity, particularly to the ...
Sidney M. Gospe Jr.
wiley   +1 more source

Powerful yet challenging: mechanistic niche models for predicting invasive species potential distribution under climate change

Ecography, EarlyView.
Risk assessments of invasive species present one of the most challenging applications of species distribution models (SDMs) due to the fundamental issues of distributional disequilibrium, niche changes, and truncation. Invasive species often occupy only a fraction of their potential environmental and geographic ranges, as their spatiotemporal dynamics ...
Erola Fenollosa, Sean E. H. Pang, Natalie J. Briscoe, Antoine Guisan, Roberto Salguero-Gómez   +4 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Mitochondrial dysfunction: Related diseases, influencing factors, and detection

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction is implicated in the pathogenesis of numerous diseases, including neurological disorders, cancers, and cardiovascular conditions, through mechanisms such as mitochondrial DNA mutations, dysregulation of mitochondrial network dynamics, and impaired mitophagy.
Zhaojin Li, Shiyu Li, Wanying Chen, Ziyu Zhang, Chun Pan, Peng Lei, Cheng Cheng, Junyou Zhu, Hanxiao Sun, Zhenning Dai   +9 more
wiley   +1 more source