Results 71 to 80 of about 612,233 (251)

Cerebral Creatine Deficiency Syndromes [PDF]

, 2012
Introduction: Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity.
Diogo, L, Oliveira, G, Fineza, I, Garcia, P, Malheiro, R   +4 more
core   +1 more source

Blood Cell‐Camouflaged Liquid Metal Nanoconjugates Orchestrate Treg Depletion and STING‐Amplified Photothermal Immunity for Metastatic Triple‐Negative Breast Cancer Therapy

Advanced Science, EarlyView.
Whole‐blood biomimetic engineering transforms liquid metal nanoparticles into a tripartite immunotherapeutic platform that orchestrates regulatory T‐cell depletion, photothermal‐induced immunogenic cell death, and activation of the stimulator of interferon genes pathway.
Nina Sang, Eijiro Miyako
wiley   +1 more source

Spatiotemporal Multi‐Omic Mapping Reveals Liver‐Muscle Metabolic Crosstalk in Cancer Cachexia

Advanced Science, EarlyView.
The interactive CCAtlas platform delineates cross‐species, spatiotemporal, and sex‐specific molecular dynamics and metabolic rewiring across organs during cancer cachexia. Hepatic Gamt downregulation curtails hepatic creatine synthesis to trigger systemic creatine insufficiency and consequent skeletal muscle atrophy in LLC tumour‐bearing mice ...
Zihan Tian, Qianyu Wang, Wenyan Gao, Xianfeng Li, Jiawen Fan, Xiaoliang Wu, Siqi Liu, Xiangdong Ming, Danna Yeerken, Mutian Shen, Qingjie Min, Qimin Zhan, Yan Wang   +12 more
wiley   +1 more source

Creatine transporter-deficient rat model shows motor dysfunction, cerebellar alterations, and muscle creatine deficiency without muscle atrophy

, 2022
Creatine (Cr) is a nitrogenous organic acid and plays roles such as fast phosphate energy buffer to replenish ATP, osmolyte, antioxidant, neuromodulator, and as a compound with anabolic and ergogenic properties in muscle.
Roux-Petronelli, Clothilde, Gabriella Fernandes‐Pires, De Bock, Katrien, Ines Soro‐Arnaiz, Soro-Arnaiz, Ines, Lara Duran‐Trio, De Bock, Katrien; id_orcid, Fernandes-Pires, G., Clothilde Roux‐Petronelli, Duran-Trio, L., Cudalbu, C., Fernandes-Pires, Gabriella, Braissant, O., Binz, Pierre-Alain, Carmen Sandi, Duran‐Trio, Lara, Roux-Petronelli, C., Olivier Braissant, Jocelyn Grosse, Grosse, J., Cudalbu, Cristina, Pierre‐Alain Binz, Soro‐Arnaiz, Ines, Binz, P.A., Binz, Pierre‐Alain, Cristina Cudalbu, Duran-Trio, Lara, Roux‐Petronelli, Clothilde, Braissant, Olivier, Soro-Arnaiz, I., Sandi, C., Grosse, Jocelyn, Sandi, Carmen, Katrien De Bock, De Bock, K., Fernandes‐Pires, Gabriella   +35 more
core   +1 more source

The Antidiabetic Potential of Alpha‐Mangostin: A Review of Preclinical and Clinical Evidence

AgriFood: Journal of Agricultural Products for Food, EarlyView.
Alpha‐mangostin is a compound from the pericarp of Garcinia mangostana. The antidiabetic effects of alpha‐mangostin include enhancing insulin secretion, improving glucose uptake through GLUT receptor upregulation, reducing oxidative stress and inflammation, promoting wound healing, reducing HbA1C, reducing HOMA‐IR index, and decreased mRNA expressions ...
Oliver Dean John, Nur Damia Iwani Zulkiflee, Siti Raihanah Shafie, Ramlah George, Melonney Patrick   +4 more
wiley   +1 more source

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad, Emily Waskow, Hari Tunuguntla, Joseph Spinner, Hanna J. Tadros, Lisa T. Emrick, Daniel G. Calame, Fernando Scaglia   +7 more
wiley   +1 more source

Use of An Animal Model of Disease for Toxicology Enables Identification of a Juvenile No Observed Adverse Effect Level for Cyclocreatine in Creatine Transporter Deficiency.

Regulatory toxicology and pharmacology : RTP, 2021
In standard general toxicology studies in two species to support clinical development, cyclocreatine, a creatine analog for the treatment of creatine transporter deficiency, caused deaths, convulsions, and/or multi-organ pathology.
Minh-Ha T Do, J. Cavagnaro, M. Butt, P. Terse, J. McKew   +4 more
semanticscholar   +1 more source

4‐Phenylbutyrate rescues folding‐deficient creatine transporter‐1 variants linked to the creatine transporter deficiency syndrome

The FASEB Journal, 2019
Mutations in the coding sequence of the hCRT‐1 gene (SLC6A8) have been associated with the creatine transporter deficiency (CTD) syndrome. CTD encompasses a range of moderate to severe conditions, from epilepsy, mental retardation, autism, development delay, behavioural problems and motor dysfunction to gastrointestinal symptoms ...
Sonja Sucic, Ali El‐Kasaby, Michael Freissmuth   +2 more
openaire   +1 more source

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency [PDF]

, 2013
Background. Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype–genotype correlation ...
Osaka, H, Soares, G, Salomons, G. S., Waltz, S., Muntau, A C, Mancini, G.M., Schwartz, CE, Munnich, A. (Arnold), van de Kamp, J., Nassogne, M.C. (M.), Jakobs, C, Betsalel, O T, Brouwer, A. de, Munnich, A., Pitelet, G., Sznajer, Y., Lion-Francois, L. (Laurence), Kant, S G, de Brouwer, A., Longo, N., Ounap, K., Anselm, I, Waltz, S, Van Esch, H., Kant, S.G. (Sarina), Schulze, A., Haar, S. von der, Osaka, H., van der Knaap, MS, Betsalel, OT, Meijers-Heijboer, H. E. von der, Ounap, K, Pinard, JM, Abdul-Rahman, O., Meijers-Heijboer, HE, Yaplito-Lee, J. (J.), Ribes, A, Anselm, I. (I.), Vilaseca, M.A., Wamelink, MMC, van der Knaap, M S, Munnich, A, Muntau, Ania Carolina, Maat-Kievit, J A, ter Haar, S (S.), Abulhoul, L., Knaap, M. S. van der, Bratkovic, D. (D.), Salomons, G S, Mancini, G. M., Kamp, J. M. van de, Maat-Kievit, J.A., Campistol, J., Schwartz, C.E., Muntau, A.C. (A.), Brouwer, A.P.M. de, Wamelink, M M C, Azzouz, H, Valongo, C. (C.), Vilaseca, MA, Errami, A. (Abdellatif), Haar, S. van der, Salomons, GS, Quijano-Roy, S. (S.), Grünewald, S. (Sonja), Van Esch, H, Schwartz, C E, Azzouz, H., Nassogne, M. C., Pouwels, P.J.W. (Petra), Monteiro, J. P., Johnson, D. (David), Johnson, D., Quijano-Roy, S, Mercimek-Mahmutoglu, S. (Saadet), Lion-Francois, L., Pinard, J.M., Ribes, A. (A.), Cheillan, D. (David), Kamp, J.M. van de, van de Kamp, J.M. (Jiddeke M.), Johnson, D, Abdul-Rahman, O, Brouwer, A (Annemarie), Poplawski, N. (Nicola), Diogo, L, Betsalel, O.T., van der Knaap, M.S., Pinard, J.M. (J.), Hamel, B., Grünewald, S, Wilcken, B, Frints, S.G.M. (Suzanna), Longo, N. (N.), Sznajer, Y. (Yves), Yaplito-Lee, J, Schwenger, S., Pouwels, P.J., Haar, S., Brouwer, A.P.M. (Arjan) de, de Brouwer, A, D'Hooghe, M. (M.), Frints, S., Mercimek-Mahmutoglu, S, Sznajer, Yves, Poplawski, N., Betsalel, O. T., van de Kamp, J M, Esch, H. van, Schwenger, S. (S.), Garcia, P. (Paula), Lion-Francois, L, Wilcken, B. (Bridget), Kant, SG, Maat-Kievit, JA, Hofstede, F.C. (Floris), Fonseca, M., Poplawski, N, Pinard, J M, Jakobs, C., Ribes, A., Pouwels, P.J.W., Diogo, L., Kleefstra, T., Mercimek-Mahmutoglu, S., Yntema, H.G., Mancini, G.M.S. (Grazia), Hamel, B, Errami, A, Õunap, K. (Katrin), Schwartz, C. E., Monteiro, JP, Monteiro, J.P., Schwenger, S, D'Hooghe, M, Valayannopoulos, V., Fonseca, M, Valayannopoulos, V. (Vassili), Abulhoul, L. (L.), Muntau, A. C., van der Knaap, M. S., Pinard, J. M., Vilaseca, M. A., Bratkovic, D., Abulhoul, L, Fonseca, M. (M.), von der Haar, S., Schulze, A, Pitelet, G. (G.), Hofstede, F., Muntau, A.C., Knaap, M.S. (Marjo) van der, Osaka, H. (H.), Vilaseca, M A, Valongo, C., Hamel, B.C.J., Salomons, G.S., Wamelink, M. M. C., Esch, H. (Hilde) van, Waltz, S. (S.), Hofstede, F, Meijers-Heijboer, H E, Longo, N, Sznajer, Y, Wilcken, B., Verheijen - Mancini, Grazia, Meijers-Heijboer, H.E., Errami, A., Maat-Kievit, J. A., Cheillan, D, Soares, G. (G.), Arias Vasquez, A., Monteiro, J P, Meijers-Heijboer, H. E., Kant, S. G., Quijano-Roy, S., Pouwels, P J W, Diogo, L. (Luisa), Van Esch, Hilde, Jakobs, C.A.J.M., Schulze, A. (A.), Muntau, AC, Meijers-Heijboer, E.J. (Hanne), Betsalel, O.T. (Ofir), Nassogne, MC, Azzouz, H. (H.), D'Hooghe, M., von der Haar, S, Nassogne, M.C., Wamelink, M.M.C., Frints, S, Hamel, B.C. (Ben), Monteiro, J.P. (J.), Arias Pérez, J.I. (José Ignacio), van de Kamp, J.M., Soares, G., Pouwels, PJW, Kleefstra, T, Valayannopoulos, V, van de Kamp, J. M., Maat-Kievit, A.A. (Anneke), Valongo, C, Arias, A, Mancini, G M, Hooghe, M. D', Pouwels, P.JW., Garcia, P, Cheillan, D., Pitelet, G, Campistol, J, Grünewald, S., Knaap, M.S. van der, Mancini, G.M.S., Kleefstra, T. (Tjitske), Abdul-Rahman, O.A. (Omar), Wamelink, M.M., Poggenburg, I., Wamelink, M.MC., Gruenewald, S., Wamelink, M.M.C. (Mirjam), Nassogne, Marie-Cécile, Abdul-Rahman, O.A., Vilaseca, M.A. (M.), Garcia, P., Arias, A., Poggenburg, I, van de Kamp, JM, Yntema, H., Jakobs, C. (Cornelis), Anselm, I., Pouwels, P. J. W., Poggenburg, I. (I.), Yaplito-Lee, J., Kant, S.G., Salomons, G.S. (Gajja), Bratkovic, D, Campistol, J.M., Yntema, H, Haar, S. (Sigrun) von der   +238 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source