Progressive encephalopathy with brain edema and/or leukoencephalopathy type 1 (PEBEL1) is a nuclear mitochondrial disorder involving the NAD(P)HX repair mechanism due to a NAXE variation. PEBEL1 is characterized by rapid neurologic deterioration culminating in death following high-grade fever during infancy. Currently, 23 patients from 14 families are described in the literature, with only three survivors. The authors report two living children from unrelated families with PEBEL1. Both children presented in infancy with ptosis, squint, and ataxia with no skin manifestations. Whole-exome sequencing revealed previously reported c.804_807delInsA (p.Lys270del) variation in exon 6 of NAXE. This is the first Indian report of PEBEL1.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s12098-023-04495-y | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Myo-inositol improves developmental competence and reduces oxidative stress in porcine parthenogenetic embryos.
Front Vet Sci
December 2024
Veterinary Medical Center and College of Veterinary Medicine, Laboratory of Veterinary Embryology and Biotechnology (VETEMBIO), Chungbuk National University, Cheongju, Republic of Korea.
Objective: Myo-inositol (Myo-Ins), the most abundant form of inositol, is an antioxidant and plays a crucial role in the development and reproduction of mammals and humans. However, information elucidating the role of Myo-Ins in porcine embryonic development after parthenogenetic activation (PA) is still lacking. Therefore, we investigated the effect of Myo-Ins on porcine embryos and its underlying mechanisms.
View Article and Find Full Text PDFIdentification of G protein subunit alpha i3 as a promising oncotarget of LUAD.
Cell Signal
December 2024
Department of Thoracic Surgery, The First Affiliated Hospital of Soochow University, Suzhou, China; Institute of Thoracic Surgery, The First Affiliated Hospital of Soochow University, Suzhou, China. Electronic address:
Exploring new oncotargets essential for lung adenocarcinoma (LUAD) cell growth is important. Here the bioinformatical studies revealed that Gαi3 expression is elevated in LUAD tissues and its overexpression correlates with poor survival of the patients. Moreover, overexpression of Gαi3 mRNA and protein was detected in LUAD tissues of patients as well as in primary/immortalized LUAD cells.
View Article and Find Full Text PDFReassessing leatherback turtle lineages and unveiling the first evidence of nuclear mitochondrial DNA in sea turtles.
Sci Rep
December 2024
Laboratório de Genética e Evolução Molecular, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
A recent study proposed a new genetic lineage of leatherback turtles (Dermochelys coriacea) based on genetic analysis, environmental history, and local ecological knowledge (LEK), suggesting the existence of two possible species or subspecies on the beaches of Oaxaca, diverging ~ 13.5 Mya. However, this hypothesis may be influenced by nuclear mitochondrial DNA segments (NUMTs), which could have been misamplified as true mtDNA.
View Article and Find Full Text PDFDeep genetic divergences and few morphological changes support the cryptic speciation in Larimus breviceps (Sciaenidae, Acanthuriformes) from the western South Atlantic.
Sci Rep
December 2024
Laboratory of Fish Microbiology, Institute of Coastal Studies, Federal University of Para (UFPA), Alameda Leandro Ribeiro s/n, Braganca, 68600-000, Para, Brazil.
We evaluate the evidence of cryptic speciation in Larimus breviceps, a species widely distributed in the western South Atlantic, from the Greater Antilles to Santa Catarina in Brazil. Mitochondrial (COI, Cyt b, and Control Region) and nuclear (IGF1 and Tmo-4C4) sequences were obtained from populations in the western South Atlantic. The analysis revealed two genetically distinct, sympatric lineages with no gene flow, with L.
View Article and Find Full Text PDFAOH1996 targets mitochondrial dynamics and metabolism in leukemic stem cells via mitochondrial PCNA inhibition.
Exp Hematol Oncol
December 2024
Department of Hematologic Malignancies Translational Science, Beckman Research Institute and City of Hope National Medical Center, Duarte, CA, USA.
Cytoplasmic proliferating cell nuclear antigen (PCNA) is highly expressed in acute myeloid leukemia (AML) cells, supporting oxidative metabolism and leukemia stem cell (LSC) growth. We report on AOH1996 (AOH), an oral compound targeting cancer-associated PCNA, which shows significant antileukemic activity. AOH inhibited growth in AML cell lines and primary CD34 + CD38 - blasts (LSC-enriched) in vitro while sparing normal hematopoietic stem cells (HSCs).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!