Results 31 to 40 of about 167,517,803 (126)

A conserved role for AMP-activated protein kinase in NGLY1 deficiency.

PLoS Genetics, 2020
Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including ...
Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M Cowan, Hamed Jafar-Nejad   +6 more
doaj   +1 more source

Protein posttranslational modifications in health and diseases: Functions, regulatory mechanisms, and therapeutic implications

MedComm, Volume 4, Issue 3, June 2023., 2023
The reversible and irreversible protein posttranslational modifications, such as acetylation, methylation, phosphorylation, ubiquitination, glycosylation, SUMOylation, and redox modifications, are essential regulators in organisms and cells. This work systematically summarizes the features, regulatory mechanisms, substrates, functions, and related ...
Qian Zhong, Xina Xiao, Yijie Qiu, Zhiqiang Xu, Chunyu Chen, Baochen Chong, Xinjun Zhao, Shan Hai, Shuangqing Li, Zhenmei An, Lunzhi Dai   +10 more
wiley   +1 more source

Preserved Statistical Learning of Tonal and Linguistic Material in Congenital Amusia [PDF]

, 2011
Congenital amusia is a lifelong disorder whereby individuals have pervasive difficulties in perceiving and producing music. In contrast, typical individuals display a sophisticated understanding of musical structure, even in the absence of musical ...
Stewart, Lauren, Lauren Stewart, Omigie, Diana, Stewart, L., Diana eOmigie, Lauren eStewart, Stewart, L; id_orcid, Diana Omigie, Omigie, D., Omigie, D   +9 more
core   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL   +35 more
core   +1 more source

NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm

JIMD Reports, 2020
Objectives Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1‐CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or genome sequencing;
Patryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska‐Świątkowska, Aldona Wierzbicka‐Rucińska, Anna Tylki‐Szymańska   +4 more
doaj   +1 more source

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. [PDF]

, 2010
N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs).
Hudson H. Freeze, Silhavy, J.L., Christian R.H. Raetz, Al-Gazali, Lihadh, Swistun, Dominika, Dusica Babovic-Vuksanovic, Guan, Z., Blümel, Peter, Sykut-Cegielska, J., Hans van Bokhoven, Bokhoven, J.H.L.M. van, Ludwig Lehle, Lehle, Ludwig, Wevers, R.A., Al-Gazali, L., Houliston, S., Dobyns, W.B., Bassam R. Ali, Lefeber, D.J., Ali, Bassam R., Raetz, Christian R.H., Dirk J. Lefeber, Guan, Ziqiang, Ron A. Wevers, Hans Hombauer, Maciej Adamowicz, Jolanta Sykut-Cegielska, Stephanie L. Bielas, Ng, B.G., Freeze, H.H., Ewa Swiezewska, Wevers, Ron A., William B. Dobyns, Gleeson, Joseph G., Bobby G. Ng, Cantagrel, Vincent, Ng, Bobby G., Swiezewska, Ewa, Lefeber, Dirk J., De Brouwer, Arjan P., Houliston, Scott, Adamowicz, M., Silhavy, Jennifer L., Lihadh Al-Gazali, Ziqiang Guan, Éva Morava, Dobyns, William B., Adamowicz, Maciej, Morava, E., Babovic-Vuksanovic, Dusica, Raetz, C.R., Vincent Cantagrel, Lehle, L., Hombauer, H., Scott Houliston, Freeze, Hudson H., Jennifer L. Silhavy, Swistun, D., Blumel, P., Babovic-Vuksanovic, D., Cantagrel, V., Gleeson, J.G., Peter Blümel, Sykut-Cegielska, Jolanta, Arjan P. De Brouwer, Morava, Éva, Joseph G. Gleeson, Brouwer, A.P.M. de, van Bokhoven, Hans, Swiezewska, E., Hombauer, Hans, Dominika Swistun, Bielas, S.L., Ali, B.R., Bielas, Stephanie L.   +74 more
core   +2 more sources

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation [PDF]

, 2011
Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children.
van Reeuwijk, Jeroen, Schuurs-Hoeijmakers, Janneke H. M., Lehle Ludwig, Schuurs-Hoeijmakers, J.H., Lorber, A., Lorber, Avraham, Zucker, N., Janneke H M Schuurs-Hoeijmakers, Zucker Nili, Grünewald Stephanie, de Brouwer Arjan P. M., Wevers, R.A., Steenbergen, Gerry, Lefeber, D.J., Steenbergen, G.C., Lammens, M.M.Y., Ron A Wevers, Adam Jozwiak, Schuurs-Hoeijmakers, Janneke H M, Wevers, Ron A., Huijben, K., Grunewald, S., Lefeber, Dirk J, Gruenewald, Stephanie, Wevers, Ron A, Willem M R van den Akker, van den Akker, Willem M. R., de Brouwer, Arjan P. M., van Bokhoven, H., Steenbergen Gerry, Hanna Mandel, Riemersma Moniek, Riemersma, Moniek, Gerry Steenbergen, Riemersma, M., Stephanie Grünewald, Lammens, Martin, Dirk J Lefeber, Eva Morava, Absmanner, B., Morava Eva, Verrijp, K., Knopf, Carlos, Verrijp, Kiek, Knopf, C., van Bokhoven, Hans, Brouwer, A.P.M. de, van den Akker Willem M. R., Nili Zucker, Jeroen van Reeuwijk, Mandel, H., Lammens Martin, Martin Lammens, Jozwiak, Adam, Carlos Knopf, de Brouwer, A.P., Absmanner, Birgit, Mandel Hanna, Hans van Bokhoven, Reeuwijk, J. van, Jozwiak, A., Ludwig Lehle, Schuurs-Hoeijmakers Janneke H. M., Lehle, Ludwig, Lorber Avraham, Huijben Karin, van Reeuwijk, J., Zucker, Nili, Hijben, K., van den Akker, Willem M R, Birgit Absmanner, Absmanner Birgit, Avraham Lorber, Steenbergen, G., Huijben, Karin, Wevers Ron A., Mandel, Hanna, Knopf Carlos, Kapusta, Livia, Lefeber, Dirk J., Livia Kapusta, Verrijp Kiek, van den Akker, W.M., Grunewald, Stephanie, van Bokhoven Hans, Morava, E., Akker, W.M.R. van den, Moniek Riemersma, Bokhoven, H. van, Lefeber Dirk J., Jozwiak Adam, Lehle, L., Kapusta, L., Lammens, M., van Reeuwijk Jeroen, Karin Huijben, Schuurs-Hoeijmakers, J.H.M., Morava, Eva, Kapusta Livia, Arjan P M de Brouwer, Kiek Verrijp   +100 more
core   +5 more sources

The mechanism of speech processing in congenital amusia: Evidence from Mandarin speakers [PDF]

, 2012
Congenital amusia is a neuro-developmental disorder of pitch perception that causes severe problems with music processing but only subtle difficulties in speech processing.
WF, Thompson, Yi Xu (131145), Jiang, C., Yang Yufang, Fang Liu, Yufang Yang, Stewart, L; id_orcid, Yi Xu, Jiang, C, Liu, Fang, Xu Yi, Liu, F., Fang Liu (13271), Stewart, Lauren, Lauren Stewart, Cunmei Jiang (184659), Xu, Y, Jiang Cunmei, Xu, Y., Cunmei Jiang, Yang, Y, William Forde Thompson (184662), Jiang, Cunmei, Lauren Stewart (84113), Thompson William Forde, Stewart Lauren, Yufang Yang (142883), Xu, Yi, William Forde Thompson, Liu Fang, Yang, Y., Liu, F, Stewart, L, Yang, Yufang, Thompson, W. F., Thompson, WF, Thompson, William Forde   +36 more
core   +1 more source

Brainstem encoding of speech and musical stimuli in congenital amusia: evidence from Cantonese speakers [PDF]

, 2015
Congenital amusia is a neurodevelopmental disorder of musical processing that also impacts subtle aspects of speech processing. It remains debated at what stage(s) of auditory processing deficits in amusia arise.
Wong, PCM, Maggu, Akshay R., Maggu, Akshay R, Lau, Joseph CY, Akshay R. Maggu, Patrick C. M. Wong, Lau, Joseph C. Y., Wong, Patrick C. M., Fang Liu, Lau, JCY, Joseph C. Y. Lau, Wong, Patrick CM, Fang eLiu, Liu, F, Maggu, AR, Akshay Raj Maggu, Liu, Fang   +16 more
core   +1 more source

Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches

Disease Models & Mechanisms, 2019
N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice.
Sangeetha Iyer, Joshua D. Mast, Hillary Tsang, Tamy P. Rodriguez, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Zachary Parton, Ethan O. Perlstein   +8 more
doaj   +1 more source