Results 81 to 90 of about 1,816 (142)

Systematic study of ophthalmological findings in 10 patients with PEX1 -mediated Zellweger spectrum disorder

Ophthalmic Genetics
This cross-sectional study describes the ophthalmological and general phenotype of 10 patients from six different families with a comparatively mild form of Zellweger spectrum disorder (ZSD), a rare peroxisomal disorder.Ophthalmological assessment included best-corrected visual acuity (BCVA), perimetry, microperimetry, ophthalmoscopy, fundus ...
Jessica S. Karuntu, Femke C. C. Klouwer, Marc Engelen, Camiel J. F. Boon   +3 more
openaire   +4 more sources

Recovery of PEX1-Gly843Asp associated peroxisome dysfunction by flavonoid compounds in fibroblasts from Zellweger spectrum patients

, 2013
Zellweger spectrum disorder (ZSD) is due to defects in any one of 13 PEX proteins, encoded by PEX genes, which are required for peroxisome biogenesis.
MacLean, Gillian
core  

THE STUDY OF THE DENTITION DEFECTS, THE INFLUENCE ON THE TEMPOROMANDIBULAR JOINTS DISCS OF ANATOMICAL CHARACTERISTICS DUE TO THE RESULTS OF MORPHOLOGICAL INVESTIGATION

Український стоматологічний альманах, 2018
This work concerns the improvement of diagnosis quality of the internal disorders temporomandibular joints (TMJ) by means of determining the dentition defects influence on morphological peculiarities of articular discs.
R.V. Kulinchenko
doaj  

In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder. [PDF]

Nat Biomed Eng
Gao XD, Presa M, Duby JE, Ryan J, Piec PA, Hsu A, Banskota S, Jiang AY, Chen L, Newby GA, Di Pietro E, Levy JM, Steele BH, Lecordier S, Qin F, Moser AB, Xie J, Gao G, Braverman NE, Zuberi AR, Hacia JG, Lutz CM, Liu DR.   +22 more
europepmc   +1 more source

Recognition and silencing of a new transposable element. [PDF]

Nat Commun
Salvi L, Yan Y, Halic M.
europepmc   +1 more source

Heimler Syndrome Caused by Novel <i>PEX6</i> Variants: Clinical and Genetic Characterization in a Saudi Cohort. [PDF]

Genes (Basel)
AlMoallem B.
europepmc   +1 more source

Pex6 and ubiquitination regulate topological remodeling of the peroxisomal membrane protein Pex14. [PDF]

J Biol Chem
Yasumitsu T, Yagita Y, Fujiki Y, Tamura S.   +3 more
europepmc   +1 more source

Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations. [PDF]

Ann Pediatr Endocrinol Metab
Ahangari N, Shirvan BB, Ashrafzadeh F, Karimiani EG, Hashemi N, Imannezhad S, Kalat HL, Ebrahimzadeh F, Akhondian J, Toosi MB.   +9 more
europepmc   +1 more source

PEX1 p.G844D +/+ NMRI mouse: a robust pre-clinical model for mild Zellweger spectrum disorder

, 2019
Zellweger spectrum disorders (ZSD) form a clinical spectrum of diseases due to a peroxisome biogenesis disorder attributable to mutations in PEX genes. ZSD has an incidence of 1:50.000 live-births.
6th Edition of IREC PhD-day, Sokal, Etienne, Demaret, Tanguy   +2 more
core  

Stress-induced remodeling of membrane-bound organelles in budding yeast. [PDF]

Curr Res Microb Sci
Sheng P, Sun M, Wang X, Bai L, Cao H, Li D.   +5 more
europepmc   +1 more source