Results 41 to 50 of about 371,748 (188)

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

A morphological view on mitochondrial protein targeting [PDF]

, 1994
Mitochondrial protein targeting includes both intramitochondrial sorting of proteins encoded by the organellar genome and import and subsequent sorting of nuclear encoded precursor proteins. Only a few proteins are encoded by the mitochondrial genome and
Ida J. van der Klei, Walter Neupert, Neupert, Walter, Marten Veenhuis, Veenhuis, Marten, Klei, Ida J. van der   +5 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

The accessory subunit of mitochondrial DNA polymerase {gamma} determines the DNA content of mitochondrial nucleoids in human cultured cells [PDF]

, 2009
The accessory subunit of mitochondrial DNA polymerase γ, POLGβ, functions as a processivity factor in vitro. Here we show POLGβ has additional roles in mitochondrial DNA metabolism.
H. Sembongi, T. Yasukawa, Yasukawa, T, Di Re, M., I. J. Holt, L. J. Bailey, Fersht, A.R., Boyd-Kirkup, JD, Martinsson, P., Holt, I.J., J. N. Spelbrink, Sembongi, H, Spelbrink, JN, Bailey, LJ, Sembongi, H., Goffart, S, P. Martinsson, A. R. Fersht, Di Re, M, Martinsson, P, Reyes, A., J. D. Boyd-kirkup, S. Goffart, Bailey, L.J., Fersht, AR, Wong, TS, T. S. Wong, Reyes, A, M. Di Re, Holt, IJ, J. He, He, J., Goffart, S., A. Reyes, Boyd-Kirkup, J.D., Wong, T.S., He, J, Yasukawa, T., Spelbrink, J.N.   +38 more
core   +2 more sources

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Hsp70 in mitochondrial biogenesis [PDF]

, 1994
The family of hsp70 (70 kilodalton heat shock protein) molecular chaperones plays an essential and diverse role in cellular physiology, Hsp70 proteins appear to elicit their effects by interacting with polypeptides that present domains which exhibit non ...
Stuart, Rosemary A., Neupert, Walter, Cyr, Douglas M.   +2 more
core   +1 more source

Non‐Alzheimer Aβ deposits in the human CNS: Implications with hypoxia and related conditions

Brain Pathology, EarlyView.
An Aβ deposit in a non‐Alzheimer's brain from an individual who experienced hypoxia/energy failure. Abstract We recently reported the deposition of Aβ in the frontal cortex of individuals who died of acute coronavirus disease 2019 (COVID‐19), or who did not have COVID‐19 but had respiratory distress, or infants with severe cardiac malformations.
Esma Karlovich, David S. Priemer, Charles Harker Rhodes, Daniel P. Perl, Kurenai Tanji, James E. Goldman   +5 more
wiley   +1 more source

Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies

, 2001
Objective: Mitochondrial disorders are responsible for a variety of neurological syndromes. Specific mitochondrial DNA mutations have been identified recently in some of these rare disorders.
Zwirner, P., Wilichowski, E.
core   +1 more source

Framework for headache management in pediatric patients with stroke and cerebrovascular lesions: A narrative review

Headache: The Journal of Head and Face Pain, EarlyView.
Abstract Objective To present a practical, evidence‐based framework for the management of headache disorders in pediatric patients with prior stroke or underlying cerebral vascular lesions, with particular attention to safety and efficacy of pharmacologic and non‐pharmacologic therapies.
Allison C. Hyland, Samuel J. Belfer, Christine K. Fox, Samantha L. Irwin, Rachel Vassar, Ann Oh, Sruthi Ilangovan, Amy A. Gelfand   +7 more
wiley   +1 more source

Perianesthetic Complications in Genetic Mitochondrial Disease: A Review of Case Reports

Pediatric Anesthesia, Volume 36, Issue 10, Page 1217-1230, October 2026.
ABSTRACT Background Genetic mitochondrial diseases (GMDs) are a large group of genetically and clinically heterogeneous disorders caused by defects in genes encoding mitochondrial components. GMDs are grouped into named syndromes based on clinical presentation, for example, Leigh syndrome (LS).
Brittany M. Johnson, Simon C. Johnson
wiley   +1 more source