Results 111 to 120 of about 46,559 (266)

Scoring system for renal pathology in Fabry disease: report of the International Study Group of Fabry Nephropathy (ISGFN) [PDF]

, 2017
Background. In Fabry nephropathy, alpha-galactosidase deficiency leads to accumulation of glycosphingolipids in all kidney cell types, proteinuria and progressive loss of kidney function. Methods.
Barbey, Federic, Bostad, Leif, Breunig, Frank, Burns, Áine, Cook, William J., Ferluga, Dusan, Fogo, Agnes B., Geldenhuys, Laurette, Grünfeld, Jean-Pierre, Howie, Alexander J., Moll, Solange, Müller, Justus, Noël, Laure-Hélène, Oliveira, João Paulo, Reeve, Roy, Svarstad, Einar, Valbuena, Carmen, Vujkovac, Bojan, Waldek, Stephen, Warnock, David G., West, Michael, Zhang, Xiao   +21 more
core  

Heart failure in two male patients with late‐onset Fabry mutation (IVS4 + 919G > A)

ESC Heart Failure, Volume 12, Issue 2, Page 1508-1513, April 2025.
Xufei Yang, Chunlan Deng, Xiaogang Guo, Hui Yan   +3 more
wiley   +1 more source

HvarAKR1B1‐mediated tolerance in Hippodamia variegata: Deciphering the metabolic adaptation and fitness costs under prolonged starvation

Pest Management Science, EarlyView.
Starvation stress significantly affected the growth and development of Hippodamia variegata. Combined transcriptome and metabolome analysis and RNA interference verification revealed that HvarAKR1B1 may be involved in the response of Hippodamia variegata to starvation stress.
Bing‐mei Song, De‐qin Hu, Yuan Li, Wang‐quan Jiao, Xiao‐li Ma, Hong‐sheng Pan   +5 more
wiley   +1 more source

Staging concept for aging management: Definition, mechanism, and coping strategies

VIEW, EarlyView.
We divided the overall aging stage into “pre‐aging”, “aging compensation”, and “aging disability”. For each stage, we delineate the clinical presentations, biological phenomena, theoretical underpinnings, and key management priorities. Abstract Aging, as a gradual and largely irreversible biological process, characterized by declining organismal ...
Zhonghan Wang, Shixian Liu, Shangyu Du, Xiangran Cui, Bo Chao, Minglei Liu, Minfei Wu   +6 more
wiley   +1 more source

Mesenchymal Stem Cells From a Klinefelter Syndrome Patient: Functional Characterization and Therapeutic Implications

Andrology, EarlyView.
ABSTRACT Background Cell therapy, particularly those utilizing mesenchymal stem/stromal cells (MSCs), is gaining traction as a therapeutic option for regenerative treatment in patients with limited therapeutic options. Although the safety of MSC‐based interventions is well established, uncertainties remain regarding how genetic abnormalities and ...
Marzena Zychowicz, Wioletta Lech, Anna Figiel‐Dabrowska, Marta Kot, Magdalena Murzyn, Natalia Malawska, Barbara Pienkowska‐Grela, Zuzanna Sandowska‐Markiewicz, Iwona Ziolkowska‐Suchanek, Agnieszka Zimna, Tomasz Oldak, Natalia Rozwadowska, Anna Sarnowska   +12 more
wiley   +1 more source

The Challenge of Diagnosis and Indication for Treatment in Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD, Carolina S. Aranda MD, MSc, Sandra O. Kyosen MD, MSc, Patricia Varela MSc, Vanessa G. Pereira PhD, Vania D’Almeida PhD, João B. Pesquero PhD, Ana M. Martins MD, PhD   +7 more
doaj   +1 more source

Radiosynthesis and Early Evaluation of a Positron Emission Tomography Imaging Probe [¹⁸F]AGAL Targeting Alpha-Galactosidase A Enzyme for Fabry Disease. [PDF]

Molecules, 2023
Lohith TG, Kaittanis C, Belanger AP, Ahn SH, Sandoval P, Cohen L, Rajarshi G, Ruangsiriluk W, Islam R, Winkelmann CT, McQuade P.   +10 more
europepmc   +1 more source

Neurokinin‐1 receptor activation protects against cardiac fibrosis, inflammation and diastolic dysfunction in type 2 diabetic mice

British Journal of Pharmacology, EarlyView.
Background and Purpose The pathogenesis of type 2 diabetes mellitus (T2DM)‐induced cardiomyopathy involves cardiac fibrosis that leads to diastolic dysfunction. We established that replacement of lost substance P (SP) that occurs in T2DM reduces cardiac fibrosis and decreases inflammation in T2DM mice and non‐human primates.
Alexander Widiapradja, Heather Connery, Brody J. Helmick, Kallie J. Schafner, Vamsi Manchikalapudi, Hannah Horvath, Sophia Gugino, Tamas Kriska, Anja Herrnreiter, Evan DeVallance, William B. Campbell, Scott P. Levick   +11 more
wiley   +1 more source

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease. [PDF]

Int J Mol Sci, 2023
Monticelli M, Hay Mele B, Allocca M, Liguori L, Lukas J, Monti MC, Morretta E, Cubellis MV, Andreotti G.   +8 more
europepmc   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source