Accès ouvert
2025
article
OpenAlex
Tal‐El Ernest, Doreen Ozalvo, Orna Staretz‐Chacham, Kyla Anna Marks et autres
BACKGROUND: The aim of this study was to assess the influence of a short betamethasone therapy course for infants diagnosed with BPD on the need of oxygen therapy after discharge home, on post-menstrual age (PMA) discharge, and on hospital readmission rates. METHODS: …
il
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Accès ouvert
2025
article
OpenAlex
Vadim Dolgin, PAULINE L. CHABOSSEAU, Jacob Bistritzer, Iris Noyman et autres
Abstract The tightly‐regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn2+ transporters: the 14‐member ZIP/SLC39 family, facilitating Zn2+ influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10‐member …
il, ca, sg, gb
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Accès ouvert
2024
article
OpenAlex
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz‐Chacham et autres
TIMM50, an essential TIM23 complex subunit, is suggested to facilitate the import of ~60% of the mitochondrial proteome. In this study, we characterized a TIMM50 disease-causing mutation in human fibroblasts and noted significant decreases in TIM23 core protein levels (TIMM50, TIMM17A/B, and …
il, us
(code pays fourni par la source)
Accès ouvert
2024
peer-review
OpenAlex
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz‐Chacham et autres
TIMM50, an essential TIM23 complex subunit, is suggested to facilitate the import of ∼60% of the mitochondrial proteome. In this study, we characterized a TIMM50 disease causing mutation in human fibroblasts and noted significant decreases in TIM23 core protein levels (TIMM50, TIMM17A/B, …
il, us
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz‐Chacham et autres
Abstract TIMM50, an essential TIM23 complex subunit, is suggested to facilitate the import of ∼60% of the mitochondrial proteome. In this study, we characterized a TIMM50 disease causing mutation in human fibroblasts and noted significant decreases in TIM23 core protein levels (TIMM50, …
il, us
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Rachel Rock, Oded Rock, Suha Daas, Vered Biton‐Regev et autres
Newborn screening (NBS) for isovaleric acidemia (IVA) reduces mortality and morbidity; however, it has also resulted in the detection of individuals with an asymptomatic or mild presentation for which early detection via newborn screening has not been proven to alter neurological outcome. …
il
(code pays fourni par la source)
Accès ouvert
2024
peer-review
OpenAlex
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz‐Chacham et autres
TIMM50, an essential TIM23 complex subunit, is suggested to facilitate the import of ∼60% of the mitochondrial proteome. In this study, we characterized a TIMM50 disease causing mutation in human fibroblasts, and noted significant decreases in TIM23 core protein levels (TIMM50, TIMM17A/B, …
il, us
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz‐Chacham et autres
Abstract TIMM50, an essential TIM23 complex subunit, is suggested to facilitate the import of ∼60% of the mitochondrial proteome. In this study, we characterized a TIMM50 disease causing mutation in human fibroblasts, and noted significant decreases in TIM23 core protein levels (TIMM50, …
il, us
(code pays fourni par la source)
Accès ouvert
2024
preprint
OpenAlex
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz‐Chacham et autres
disease-causing mutation in human fibroblasts and noted significant decreases in TIM23 core protein levels (TIMM50, TIMM17A/B, and TIMM23). Strikingly, TIMM50 deficiency had no impact on the steady-state levels of most of its putative substrates, suggesting that even low levels of a functional …
il, us
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Ben Pode‐Shakked, Yuval E. Landau, Nava Shaul Lotan, Joshua Manor et autres
Dihydrolipoamide dehydrogenase (DLD) deficiency is an ultra-rare autosomal-recessive inborn error of metabolism, affecting no less than five mitochondrial multienzyme complexes. With approximately 30 patients reported to date, DLD deficiency was associated with three major clinical presentations: an early-onset encephalopathic phenotype with metabolic …
il
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Accès ouvert
2024
preprint
OpenAlex
Eyal Paz, Sahil Jain, Irit Gottfried, Orna Staretz‐Chacham et autres
disease causing mutation in human fibroblasts and noted significant decreases in TIM23 core protein levels (TIMM50, TIMM17A/B, and TIMM23). Strikingly, TIMM50 deficiency had no impact on the steady state levels of most of its putative substrates, suggesting that even low levels of …
il, us
(code pays fourni par la source)
Accès ouvert
2023
article
OpenAlex
Reena Kumari Sharma, Caroline Aimee Hastings, Orna Staretz‐Chacham, Julian Raiman et autres
Niemann-Pick disease type C (NPC) is a rare, fatal, pan-ethnic, autosomal recessive lysosomal storage disease characterized by progressive major organ failure and neurodegeneration. Preclinical studies confirmed a critical role of systemically administered hydroxypropyl-β-cyclodextrin (HP-β-CD; Trappsol® Cyclo™) in cholesterol metabolism and homeostasis in …
gb, us, il, se
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