Results 61 to 70 of about 1,908,891 (267)

Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation

, 2009
Objectives:  Defects of the mitochondrial genome (mtDNA) cause a series of rare, mainly neurological disorders. In addition, they have been implicated in more common forms of movement disorders, dementia and the ageing process.
Smulders-Srinivasan, T. K., Turnbull, Doug, Trevelyan, Andrew, Smulders-Srinivasan, Tora, Rennie, Katherine, Acin-Perez, Rebecca, Enriquez, J. A., Rennie, K. J., Lightowlers, R. N., Smulders-Srinivasan, T. K.; id_orcid, Kirby, D. M., Whittington, M., Trevelyan, A. J., Turnbull, D. M., Acin-Perez, R., Kirby, Denise, Lightowlers, Robert, Whittington, Miles, Enriquez, Jose   +18 more
core   +1 more source

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization [PDF]

, 2012
Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity ...
Gileadi, Opher, Cooper, Christopher D O, Twigg, SR, Beales, PL, McGowan, SJ, Gileadi, O, Jenkins, Dagan, Lloyd, D, Gillessen-Kaesbach, G, Hüning, I, Elçioglu, Nursel E., Hüning, Irina, Wilkie, Andrew O.M., Twigg, Stephen R F, Annagür, Ali, Knight, Samantha, Goodship, JA, Knight, Samantha J L, Cooper, CD, Gillessen-Kaesbach, Gabriele, Jenkins, D, Knight, Samantha J.L., Knight, SJ, Wilkie, AOM, McGowan, Simon J., Twigg, SRF, Beales, Philip L., Lloyd, Deborah, Wilkie, Andrew O M, Al-Sannaa, N, Al-Sannaa, Nouriya, Annagür, A, Twigg, Stephen R.F., Keavney, Bernard D., Knight, SJL, Cooper, CDO, Cooper, Christopher D.O., Elçioglu, NE, Goodship, Judith A., Keavney, BD, Wilkie, AO   +40 more
core   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH

, 2002
Background & Aims: MUTYH-associated polyposis (MAP) is an autosomal recessive disorder caused by mutations in the MUTYH gene. Patients with MAP are at extremely high risk of colorectal cancer, but the risks of colorectal and other cancers in ...
Jones, Natalie, Maher, Eamonn, Sampson, Julian Roy, Edwards, Emma, Christian, Daria, Evans, D Gareth, Vasen, Hans F., Wark, Petra A., Sampson, Julian R, Eccles, Diana, Aretz, Stefan, Nielsen, Maartje, Maher, Eamonn R., Wark, Petra A, Vogt, Stefanie, Wark, Petra A.; id_orcid, Hes, Frederik J, Hes, Frederik J., Evans, D. Gareth, Sampson, Julian R., Vasen, Hans F, Maher, Eamonn R   +21 more
core   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

The ubiquitin ligase RNF115 is required for the clearance of damaged lysosomes

FEBS Letters, EarlyView.
Upon lysosomal rupture, an E3 ubiquitin ligase RNF115 translocates from the cytosol to the damaged lysosomal membrane. Moreover, RNF115 depletion impairs the clearance of damaged lysosomes, identifying it as a key regulator of lysosomal quality control.
Sae Nakanaga, Toshiki Takahashi, Akiko Kuma, Hiroyuki Kawahara   +3 more
wiley   +1 more source

Evolution and Mutation [PDF]

Monist, 1907
n ...
openaire   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source