Zellweger Syndrome Latest Advances

Dual role of the OMM E3 Ub ligase MARCH5 in de novo peroxisome biogenesis and mitochondrial quality control through direct regulation of Pex26.

Journal: bioRxiv : the preprint server for biology

Published: May 25, 2026

Clinically relevant AAV8- PEX1 gene therapy preserves retinal integrity and function long-term in a murine model of Zellweger spectrum disorder.

Journal: bioRxiv : the preprint server for biology

Published: May 25, 2026

Modeling the cell biology of PEX11β deficiency during human neurogenesis.

Journal: bioRxiv : the preprint server for biology

Published: February 27, 2026

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report.

Journal: BMC pediatrics

Published: December 15, 2025

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

Journal: Journal of lipid research

Published: October 24, 2025

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Journal: Ophthalmic genetics

Published: October 23, 2025

Pathophysiological significance of cholesterol in ciliopathies.

Journal: Fujita medical journal

Published: September 25, 2025

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Journal: Cureus

Published: August 24, 2025

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Journal: International journal of neonatal screening

Published: August 14, 2025

Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.

Journal: Indian journal of pediatrics

Published: July 19, 2025

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.

Journal: Analytical cellular pathology (Amsterdam)

Published: June 29, 2025

Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.

Journal: Molecular genetics and metabolism

Published: June 25, 2025

Zellweger Syndrome Latest Advances

Find the Latest Research About Zellweger Syndrome

Dual role of the OMM E3 Ub ligase MARCH5 in de novo peroxisome biogenesis and mitochondrial quality control through direct regulation of Pex26.

Dual role of the OMM E3 Ub ligase MARCH5 in de novo peroxisome biogenesis and mitochondrial quality control through direct regulation of Pex26.

Clinically relevant AAV8- PEX1 gene therapy preserves retinal integrity and function long-term in a murine model of Zellweger spectrum disorder.

Clinically relevant AAV8- PEX1 gene therapy preserves retinal integrity and function long-term in a murine model of Zellweger spectrum disorder.

Modeling the cell biology of PEX11β deficiency during human neurogenesis.

Modeling the cell biology of PEX11β deficiency during human neurogenesis.

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report.

Early hypotonia and visual regression as presenting features of peroxisome biogenesis disorder: an Egyptian case report.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

New multiplex LC-MS/MS method for lipid biomarker analysis of inherited neurodegenerative metabolic diseases.

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Late diagnosis of Heimler syndrome and review of the genetic and phenotypic spectrum.

Pathophysiological significance of cholesterol in ciliopathies.

Pathophysiological significance of cholesterol in ciliopathies.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study.

Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.

Chondrodysplasia Punctata: A Diagnostic Clue for Zellweger Spectrum Disorder.

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.

Identification of Potential Therapeutic Agents for Primary Amebic Meningoencephalitis Using Text Mining and Bioinformatics Analyses.

Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.

Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.