Aicardi-Goutieres Syndrome Latest Advances

Find the Latest Research About Aicardi-Goutieres Syndrome

Last Updated: 04/28/2026

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Found 375 publications

Microglia replacement by ER-Hoxb8 conditionally immortalized macrophages provides insight into Aicardi-Goutières syndrome neuropathology.

Microglia replacement by ER-Hoxb8 conditionally immortalized macrophages provides insight into Aicardi-Goutières syndrome neuropathology.

Journal: eLife

Published: January 27, 2026

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.

Journal: Clinical immunology (Orlando, Fla.)

Published: December 11, 2025

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.

Pharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.

Journal: Nature communications

Published: November 04, 2025

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.

Journal: Rheumatology (Oxford, England)

Published: September 14, 2025

Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.

Unravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.

Journal: BMJ case reports

Published: August 25, 2025

Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic RNASEH2B Variant.

Recurrent Hemorrhagic Stroke and Microcephaly in a Newborn with Aicardi-Goutières Syndrome Caused by a Homozygous Intronic RNASEH2B Variant.

Journal: Annals of clinical and laboratory science

Published: August 01, 2025

Dual pathology of parvovirus B19 infection and Aicardi-Goutières syndrome complicating non-immune hydrops fetalis.

Dual pathology of parvovirus B19 infection and Aicardi-Goutières syndrome complicating non-immune hydrops fetalis.

Journal: BMJ case reports

Published: July 31, 2025

Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.

Chronic interferon-alpha overexpression induces white matter damage and neurovascular abnormalities in a mouse model of Aicardi-Goutières syndrome.

Journal: Experimental neurology

Published: July 31, 2025

Aicardi-Goutières syndrome with atypical presentation: RNASEH2B gene mutation in an infant without microcephaly or intracranial calcifications (a case report)

Aicardi-Goutières syndrome with atypical presentation: RNASEH2B gene mutation in an infant without microcephaly or intracranial calcifications (a case report)

Journal: The Pan African medical journal

Published: July 22, 2025

Metformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells.

Metformin Reduces Oxidative Damage in RNASEH2-Mutant Aicardi-Goutières Cells.

Journal: Genes

Published: June 30, 2025

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

Journal: Molecular genetics and metabolism

Published: June 18, 2025

Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.

Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.

Journal: Journal of child neurology

Published: May 22, 2025

Showing 1-12 of 375

Last Updated: 04/28/2026