Results 81 to 90 of about 4,199 (162)

CLN3 clinches lysosomes in clearance of glycerophospholipids

Life Metabolism, 2022
Guang Lu, Han-Ming Shen
openaire   +2 more sources

The parent and family impact of CLN3 disease: an observational survey-based study

Orphanet Journal of Rare Diseases
Background CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3.
Angela Schulz, Nita Patel, Jon J. Brudvig, Frank Stehr, Jill M. Weimer, Erika F. Augustine   +5 more
doaj   +1 more source

The Effect of CLN3 Disease on Organellar Characteristics

, 2021
CLN3 disease, or juvenile dementia, is a lysosomal storage disorder with largely neurological symptoms. Towards the end of their lives, individuals with CLN3 disease develop a cardiac phenotype, which has not yet been systematically studied. On a cellular level, mutations in CLN3 have been shown to disrupt the endo-lysosomal system.
openaire   +1 more source

Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions

Stem Cell Research
Primary fibroblasts from six individuals with CLN3-related conditions were used to generate induced pluripotent stem cell (iPSC) lines CHDTRi001-B, CHDTRi002-B, CHDTRi003-A, CHDTRi004-B, CHDTRi005-A, and CHDTRi006-E through the expression of four ...
Ewelina Dwojak, Danielle O’Mard, Jizhong Zou, Christopher A. Wassif, Sandra Burkett, Michael Eckhaus, Fabio Rueda Faucz, Cameron Padilla, Rafael Villasmil, Wei Zheng, An N. Dang Do   +10 more
doaj   +1 more source

CLN3 Gene [PDF]

, 2020
openaire   +1 more source

CLN3 wt Allele [PDF]

, 2020
openaire   +1 more source

Constraints on the G1/S transition pathway may favor selection of multicellularity as a passenger phenotype. [PDF]

Elife
Ducrocq TL, Laporte D, Daignan-Fornier B.   +2 more
europepmc   +1 more source

Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology. [PDF]

Orphanet J Rare Dis
Mink JW, Adams HR, Ahrens-Nicklas R, Andersen BN, Augustine E, Boustany RM, Cooper JD, Levin A, Gissen P, Laine M, Mason HL, Mole SE, Nickel M, Ostergaard JR, Sikorra L, Treat L, Whiteman IT, Williams R, Schulz A.   +18 more
europepmc   +1 more source

Experimental evolution of cellular miniaturization reveals a putative mechanism for cell size evolution. [PDF]

Proc Natl Acad Sci U S A
Garoña A, Lemos MV, Giometto A, Fumasoni M.   +3 more
europepmc   +1 more source

RNA-specific local translation is patterned by condensates for multinucleate cell growth. [PDF]

Nat Cell Biol
Geisterfer ZM, Jalihal AP, Cole SJ, Gladfelter AS.   +3 more
europepmc   +1 more source