Profil bibliographique

Grace Jefferies

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

5Publications signalées
11Citations signalées
1Affiliations récentes

Les institutions déclarées

La Trobe University

Les domaines associés

Glycosylation and Glycoproteins ResearchMetabolism and Genetic DisordersMicrobial Metabolic Engineering and BioproductionAmino Acid Enzymes and MetabolismNeurobiology and Insect Physiology Research

Les publications récentes

Accès ouvert 2025 article OpenAlex

Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency

Sarah Mele, F Martelli, CK Barlow, Grace Jefferies et autres

Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted …

au (code pays fourni par la source)

0 citations La Trobe University
Accès ouvert 2025 article OpenAlex

Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency

Sarah Mele, F Martelli, CK Barlow, Grace Jefferies et autres

Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted …

au (code pays fourni par la source)

0 citations La Trobe University
2024 article OpenAlex

Valine Restriction Extends Survival in a Drosophila Model of Short‐Chain Enoyl‐ CoA Hydratase 1 ( ECHS1 ) Deficiency

Sarah Mele, Felipe Martelli, Christopher K. Barlow, Grace Jefferies et autres

Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted …

au (code pays fourni par la source)

5 citations Journal of Inherited Metabolic Disease
Accès ouvert 2024 preprint OpenAlex

Valine restriction extends survival in a Drosophila model of short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency

Sarah Mele, Felipe Martelli, Christopher K. Barlow, Grace Jefferies et autres

Summary Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single …

au (code pays fourni par la source)

0 citations bioRxiv (Cold Spring Harbor Laboratory)
Accès ouvert 2022 article OpenAlex

Noggin proteins are multifunctional extracellular regulators of cell signaling

Prashath Karunaraj, Olivia Tidswell, Elizabeth J. Duncan, Mackenzie Lovegrove et autres

Noggin is an extracellular cysteine knot protein that plays a crucial role in vertebrate dorsoventral patterning. Noggin binds and inhibits the activity of bone morphogenetic proteins via a conserved N-terminal clip domain. Noncanonical orthologs of Noggin that lack a clip domain ("Noggin-like" …

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6 citations Genetics
Notice OpenAlex

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