Results 91 to 100 of about 1,386 (148)

Peroxisome dysfunction alters metabolism of photoreceptor outer segments in human retinal pigment epithelium

Peroxisomes are ubiquitous organelles that compartmentalize metabolic reactions including lipid catabolism and cellular detoxification. Pathogenic variants in PEX1 and PEX6 disrupt essential peroxisome functions and cause profound neurodegenerative ...
Hojjat, Hamed, Huguenin, Suzette M., Rieger, Aja, Misaghi, Ehsan, Benson, Matthew D., Hufnagel, Robert B., Zhang, Qitao, Radziwon, Alina, Han, John Y.S., Huynh, Brandon C., Feldman, Carly B., Fufa, Temesgen D., Miller, Jason M.L., Trombly, Erin, Mouzaaber, Constantin   +14 more
core   +1 more source

Normal cognitive outcome in a PEX6 deficient girl despite neonatal multisystem presentation

American Journal of Medical Genetics Part A, 2016
Witters, Peter, Régal, Luc, Waterham, Hans R, De Meirleir, Linda, Wanders, Ronald J A, Morava, Eva   +5 more
openaire   +4 more sources

The peroxisomal importomer can accommodate an intrinsically disordered protein of 1247 residues. [PDF]

Histochem Cell Biol
Pedersen MP, Krikken AM, de Boer R, van der Klei IJ.   +3 more
europepmc   +1 more source

Engineering yeast peroxisome assembly enables the increased production of acetyl-CoA and its derived 5-deoxyflavonoids. [PDF]

Nat Commun
Li Y, Du B, Li C, Feng X.
europepmc   +1 more source

PEX1^G843D remains functional in peroxisome biogenesis but is rapidly degraded by the proteasome. [PDF]

J Biol Chem
Sheedy CJ, Chowdhury SP, Ali BA, Miyamoto J, Pang EZ, Bacal J, Tavasoli KU, Richardson CD, Gardner BM.   +8 more
europepmc   +1 more source

Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults. [PDF]

Front Pediatr
Hoskins BJ, Pramparo T, Gough E, Ponte A, Dutta R, Karnsakul W.   +5 more
europepmc   +1 more source

Whole exome sequencing diagnosing syndromic and non-syndromic hearing loss with expansion of the phenotypic spectrum related to TMC1 variants. [PDF]

Eur J Pediatr
Elbagoury NM, Ashaat EA, Mekkawy MK, Mohamed RY, Askoura AM, Milad PM, Essawi ML.   +6 more
europepmc   +1 more source

The yeast peroxisomal proteome at absolute quantitative scale. [PDF]

Histochem Cell Biol
Das H, Oeljeklaus S, Maier R, Bender J, Warscheid B.   +4 more
europepmc   +1 more source

Using multiple modalities to confirm diagnosis in patients with suspected peroxisome biogenesis disorders. [PDF]

Mol Genet Metab
Cheung ACT, Di Pietro E, Argyriou C, Bareke E, D'Souza Y, Puri RD, Muhammed Shabeer P, Ganetzky R, Goldstein A, Vanderver A, Mohan S, Majewski J, Yergeau C, Braverman N.   +13 more
europepmc   +1 more source

CRISPR-based chemogenomic profiling reveals redox vulnerabilities to epigallocatechin-3-gallate and green tea polyphenol extract. [PDF]

Redox Biol
Akla N, Boudah A, Bertomeu T, Chatr-Aryamontri A, Desjarlais M, Annabi B.   +5 more
europepmc   +1 more source