Latest papers

Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.

High incidence of hyperoxaluria in generalized peroxisomal disorders.

Anesthesia for the child with Zellweger syndrome: a case report.

Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance.

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex.

Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms.

Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations.

PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.

Caudothalamic groove cysts in Zellweger syndrome.

Requirement for microtubules and dynein motors in the earliest stages of peroxisome biogenesis.

Absence of peroxisomes in mouse hepatocytes causes mitochondrial and ER abnormalities.

Recognition of Zellweger syndrome in infancy1

Peroxisome biogenesis disorders: the role of peroxisomes and metabolic dysfunction in developing brain.

Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patients.

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects.

[Subependymal pseudocysts in the fetal brain revealing Zellweger syndrome].

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.

Peroxisomal localization in the developing mouse cerebellum: implications for neuronal abnormalities related to deficiencies in peroxisomes.