Results 71 to 80 of about 1,908,891 (267)

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. [PDF]

, 2013
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is characterized by progressive ...
Land, John M., Lin, JP, Antony, J, Brandner, Sebastian, Broomfield, Alexander, Menezes, MP, Oppenheim, Marcus, Horvath, Rita, Pandraud, Amelie, Lin, Jean-Pierre, Scherer, Steven S., Abrams, Alexander J., Shah, Ayaz H, Sugano, K, Lim, MJ, Scoto, Mariacristina, Carpenter, Kevin, Megarbane, Andre, Gold, Wendy, Land, JM, Ng, Joanne, Phadke, Rahul, Matsubara, K, Mathew, Ann A., Lim, Ming J., Shah, AH, Lek, Monkol, Foley, AR, Matsubara, Kazuo, Hargreaves, Iain, Foley, A. Reghan, Züchner, S, Manzur, Adnan Y., Lim, Ming J, McCullagh, BG, Mathew, Ann A, Reilly, Mary M, McGarvey, Michael L, Olpin, S, Urtizberea, JA, Scoto, M, Webster, R, Lek, M, Olpin, Simon, Wang, Min X, Reilly, MM, Farrell, Michael O., Burns, J, Houlden, H, McCullagh, B. Gary, Forman, Eva, Burns, Joshua, Straub, Volker, Hargreaves, IP, Houlden, Henry, Gonzalez, Michael A., Megarbane, A, Jungbluth, Heinz, O'Byrne, JJ, Scherer, Steven S, Pandraud, A, Menezes, Manoj P., Hughes, Imelda, O’Byrne, James J, Gonzalez, Michael A, Gold, W, McCullagh, B Gary, Muntoni, Francesco, Züchner, Stephan, Scherer, SS, Baxter, PS, Shah, Ayaz H., Jungbluth, Heinz; id_orcid, Christodoulou, John, O'Byrne, James J, McGarvey, ML, O'Brien, Katherine, Clayton, P, Broomfield, A, Menezes, Manoj P, King, MD, Yonezawa, Atsushi, O'Byrne, James J., Baxter, Peter S, McGarvey, Michael L., Prasad, M, Ng, J, Straub, V, Land, John M, Muntoni, F, Abrams, AJ, Lin, J-P, O’Brien, Katherine, Al-Odaib, A, Rahman, S, Al-Odaib, Ahmad, Zuechner, Stephan, Clayton, Peter, Manzur, Adnan Y, Phadke, R, Reilly, Mary M., Jungbluth, H, Farrell, Michael O, Prasad, Manish, Ouvrier, Robert A, Farrell, MO, Antony, Jayne, Horvath, R, Foley, A Reghan, Forman, E, Manzur, AY, Brandner, S, Hargreaves, I, Gonzalez, MA, Christodoulou, J, Rahman, Shamima, King, Mary D, King, Mary D., Sugano, Kumiko, Hughes, I, Ouvrier, RA, Wang, Min X., Ouvrier, Robert A., Urtizberea, J. Andoni, Webster, Richard, Abrams, Alexander J, Urtizberea, J Andoni, Baxter, Peter S., O'Brien, K, Wang, MX, Mathew, AA, Oppenheim, M, Carpenter, K, Yonezawa, A, Zuechner, S   +134 more
core   +1 more source

The human gut microbiome across the life course

FEBS Letters, EarlyView.
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source

Mitochondrial DNA mutations affect calcium handling in differentiated neurons.

, 2010
Contains fulltext : 88975.pdf (Publisher’s version ) (Closed access)Mutations in the mitochondrial genome are associated with a wide range of neurological symptoms, but many aspects of the basic neuronal pathology are not understood ...
Enriquez, J.A., Turnbull, D.M., Smulders-Srinivasan, Tora, Lightowlers, R.N., Trevelyan, A.J., Nooteboom, Marco, Nooteboom, M., Smulders-Srinivasan, T.K., Smulders-Srinivasan, Tora K., Acin-Perez, Rebeca, Whittington, Miles A., Lightowlers, Robert N., Whittington, M.A., Turnbull, Doug, Kirby, Denise M., Trevelyan, Andrew, Smulders-Srinivasan, Tora K.; id_orcid, Acin-Perez, Rebecca, Trevelyan, Andrew J., Turnbull, Doug M., Acin-Perez, R., Enriquez, José Antonio, Kirby, Denise, Lightowlers, Robert, Kirby, D.M., Enriquez, Jose, Whittington, Miles   +26 more
core   +1 more source

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations [PDF]

, 2004
CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown.
John W. Scott, D. Grahame Hardie, Norman, D G, Miliea Anis, Scullion, Gillian A., Stewart, Greg, Scullion, Gillian A, Scott, J.W, Green, Kevin A, Simon A. Hawley, David G. Norman, Hawley, Simon A., Norman, David G., Gillian A. Scullion, Kevin A. Green, Scott, John W., Anis, Miliea, Green, Kevin A., Hardie, D. Grahame, Hawley, Simon A, Greg Stewart   +20 more
core   +1 more source

Septin 9 PB domains coordinate centrosome positioning and microtubule acetylation to control epithelial polarity

FEBS Letters, EarlyView.
Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai, Mohyeddine Omrane, Nassima Benzoubir, Didier Samuel, Ama Gassama‐Diagne   +4 more
wiley   +1 more source

Rab14 regulates the transport of human papillomavirus to the trans‐Golgi network for infectious cell entry

FEBS Letters, EarlyView.
This study reveals that the small GTPase Rab14 is necessary for human papillomavirus (HPV) infection and plays an essential role in the transport of virions to the trans‐Golgi network (TGN). HPV in the early endosome (EE), which harbors GTP‐bound Rab14, is transported to the TGN through the switch of Rab14 from its GTP‐bound to GDP‐bound form.
Yoshiyuki Ishii, Iwao Kukimoto
wiley   +1 more source

Gene mutations and expression in breast cancer

, 2000
Bibliography: leaves 163-190.Breast cancer is the most common cause of death amongst women, with the incidence of the disease varying between countries. Like all other cancers, breast cancer is a multigenic disorder with mutations in oncogenes and tumour
Donninger, Howard
core  

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.

, 2002
Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor.
Flanagan, AM, S Bevan, C Fisher, Houlston, RS, C J Finlayson, R Wang, Y-J Lu, J Shipley, R S Houlston, J A Bridge, Bridge, JA, K T Barker, Barker, KT, Fisher, C, Finlayson, CJ, A M Flanagan, Shipley, J, Bevan, S, Wang, R, Lu, YJ   +19 more
core   +1 more source

Modulation of Homer1 EVH1 domain internal dynamics by putative autism‐associated mutations

FEBS Letters, EarlyView.
The putative autism‐associated M65I and S97L variants of the EVH1 domain of the postsynaptic scaffold protein Homer1 do not exhibit substantial changes in their overall structure or partner binding. Both of them, but especially the M65I variant, show altered internal dynamics relative to the wild‐type domain on the μs‐ms timescale, indicated by the ...
Fanni Farkas, Brigitta Maruzs, Zsófia E. Kálmán, Tomas Klumpler, Gyula Batta, Bálint Péterfia, Zoltán Gáspári   +6 more
wiley   +1 more source

The ubiquitin‐proteasome system and autophagy as guardians of the cellular proteome

FEBS Letters, EarlyView.
This Perspective covers the three principles governing the crosstalk between the ubiquitin‐proteasome system and autophagy in cellular proteostasis: (1) a shared ubiquitin code routing substrates via shuttle factors or autophagy receptors; (2) spatial compartmentalization into phase‐separated degradation hubs and organelle‐specific modules (exemplified
Ivan Dikic
wiley   +1 more source