Results 131 to 140 of about 1,135,071 (192)

From lipid function to dysfunction: Very long-chain fatty acids as emerging regulators of neuroinflammatory pathways. [PDF]

iScience
Sahu RK, Yang Y, Chung HL.
europepmc   +1 more source

Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study. [PDF]

BMC Med Genomics
Khalilian S, Fathi M, Jamshidi S, Madannejad R, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

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

J Lipid Res
Sidorina A, Catesini G, Deodato F, Boenzi S, Martinelli D, Rizzo C, Dionisi-Vici C.   +6 more
europepmc   +1 more source

Evolutionary remodeling of a remnant GET pathway factor into PEX38, an essential peroxin. [PDF]

Proc Natl Acad Sci U S A
Krishna CK, Gaussmann S, Das H, Jung M, Oeljeklaus S, Sattler M, Warscheid B, Kalel VC, Erdmann R.   +8 more
europepmc   +1 more source

Reversibility and therapeutic feasibility of DNM1L-associated neurodevelopmental disorders. [PDF]

Exp Mol Med
So KH, Kim SH, Jang S, Sang HD, Yun EJ, Choi HJ, Chae JH, Baek ST.   +7 more
europepmc   +1 more source

Jalili syndrome: Sibling cases with variable phenotypes. [PDF]

Indian J Ophthalmol
Sharda S, Bharti N.
europepmc   +1 more source

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

Metabolomic Profiling Reveals Brain Lipid Alterations in <i>PEX7</i>-Deficient Models of Rhizomelic Chondrodysplasia Punctata. [PDF]

Biomolecules
Sankhe R, Williams MI, Fallatah W, Mackay L, Brown ML, Bhagwat P, Elsea SH, Braverman N, Wangler MF.   +8 more
europepmc   +1 more source

Lipid ciliology: specialized ciliary membrane lipids in physiology and disease. [PDF]

Front Cell Dev Biol
Hasan A, Morita T, Hirosawa M, Kitamura N, Murakami R, Mikuni M, Kobayashi D, Itabashi T, Miyamoto T.   +8 more
europepmc   +1 more source

Neonatal Onset Seizures and Hypotonia Due to D-Bifunctional Protein Deficiency. [PDF]

Indian J Pediatr
Yahia S, Ghozzy D, Wahba Y, Abdelmoneim Z.   +3 more
europepmc   +1 more source