Results 81 to 90 of about 78,667 (269)

Frequency of Fabry disease in a juvenile idiopathic arthritis cohort

Pediatric Rheumatology Online Journal, 2021
Background Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare.
Luciana Paim-Marques, Amanda Virginia Cavalcante, Islane Verçosa, Paula Carneiro, Marcia Souto-Maior, Erlane Marques, Simone Appenzeller   +6 more
doaj   +1 more source

DEL‐1 is an Endogenous Senolytic Protein that Inhibits Senescence‐Associated Bone Loss

Advanced Science, EarlyView.
Senescent bone marrow stromal cells accumulate in the aging bone microenvironment, promoting bone degeneration. DEL‐1, an endogenous secreted protein, acts as a natural senolytic that selectively eliminates these cells. By engaging a β3 integrin/CD73/adenosine/p38 MAPK/BCL‐2 pathway, DEL‐1 counters aging‐related bone loss, revealing promising ...
Jong‐Hyung Lim, Kridtapat Sirisereephap, Hui Wang, Giulia Trimaglio, Kyoung‐Jin Chung, Jonathan Korostoff, Tetsuhiro Kajikawa, Xiaofei Li, Meircurius D.C. Surboyo, Tomoki Maekawa, Triantafyllos Chavakis, George Hajishengallis   +11 more
wiley   +1 more source

Fabry Disease - literature review

Journal of Education, Health and Sport
Introduction and objective: Fabry disease (FD) is a rare lysosomal storage disorder that can manifest in classical and atypical forms, with the latter being more common. It results from deficient alpha-galactosidase activity, leading to the accumulation
Krystian Wdowiak, Agnieszka Maciocha, Julia Wąż, Aleksandra Witas, Adrian Muzyka, Julia Rydzek, Ewa Gardocka   +6 more
doaj   +1 more source

Biotechnological applications of functional metagenomics in the food and pharmaceutical industries [PDF]

, 2015
peer-reviewedMicroorganisms are found throughout nature, thriving in a vast range of environmental conditions. The majority of them are unculturable or difficult to culture by traditional methods.
Alvarez-Ordonez, Avelino, Cotter, Paul D., Coughlan, Laura M., Hill, Colin   +3 more
core   +1 more source

Identification and Characterization of an In Silico Designed Membrane‐Active Peptide with Antiviral Properties

Advanced Science, EarlyView.
An evolutionary molecular dynamics platform is used to design P1.6, a membrane‐active peptide that senses lipid packing defects in viral envelopes. P1.6 adopts a stabilized α‐helical structure upon membrane contact, disrupts virus‐like liposomes, and damages HIV‐1 particles.
Pascal von Maltitz, Niek van Hilten, Tatjana Weil, Thunchanok Thummaraj, Jeroen Methorst, Dennis Aschmann, Alexander Kros, Clarissa Read, Jasmina Gačanin, Herre Jelger Risselada, Jan Münch   +10 more
wiley   +1 more source

Ultrastructural deposits appearing as “zebra bodies” in renal biopsy: Fabry disease?– comparative case reports

BMC Nephrology, 2017
Background Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency. Certain drugs, such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in FD, characterizing a type of drug-induced ...
Precil Diego Miranda de Menezes Neves, Juliana Reis Machado, Fabiano Bichuette Custódio, Maria Luíza Gonçalves dos Reis Monteiro, Shigueo Iwamoto, Marlene Freire, Marisa França Ferreira, Marlene Antônia dos Reis   +7 more
doaj   +1 more source

Targeting tumour re-wiring by triple blockade of mTORC1, epidermal growth factor, and oestrogen receptor signalling pathways in endocrine-resistant breast cancer [PDF]

, 2018
Background Endocrine therapies are the mainstay of treatment for oestrogen receptor (ER)-positive (ER+) breast cancer (BC). However, resistance remains problematic largely due to enhanced cross-talk between ER and growth factor pathways, circumventing ...
A Carracedo, A Subramanian, AH Evans, Allan Thornhill, Alshad S. Lalani, Aradhana Rani, C Trapnell, CK Osborne, CX Ma, Eugene Schuster, FL Chen, Francesca Avogadri-Connors, G Arpino, HJ Burstein, IE Smith, J Baselga, Joanna Nikitorowicz-Buniak, KE Bachman, KE O'Reilly, L Gandhi, LA Martin, LA Martin, Lesley-Ann Martin, LV Sequist, M Arnedos, M Dowsett, Mitch Dowsett, MT Weigel, N Patani, N Simigdala, NA O'Brien, Nikiana Simigdala, R Ribas, Ricardo Ribas, Richard E. Cutler, S Johnston, SC Drury, SN Mohd Nafi, SP Newman, Stephanie K. Guest, Stephen R. Johnston, Sunil Pancholi, T Nagashima, W Luo   +43 more
core   +6 more sources

Alpha-galactosidase A deficiency (Fabry's disease) in a black Zimbabwean.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1993
We describe a patient with Fabry's disease with renal and myocardial involvement. He has been followed up for 10 years. This metabolic defect has not been noted before in southern Africa; the clinical course is similar to that of western European and American cases.
Borok, MZ, Gabriel, R
openaire   +2 more sources

Gut–Metabolome–Proteome Interactions in Age‐Related Hearing Loss: Insights from Fecal Microbiota Transplantation and Multi‐Omics Analyses

Advanced Science, EarlyView.
Germ‐free (GF) mice receiving fecal microbiota transplantation (FMT) reveal microbiota‐dependent effects on auditory aging. Integrated metagenomic, metabolomic and proteomic profiling maps gut–inner ear network and highlights 5‐hydroxytryptophan (5‐HTP) as a microbiota‐linked metabolic hub in age‐related hearing loss (ARHL).
Ting Yang, Ziwen Gao, Hui Huang, Chanyuan Zhang, Yiquan Tang, Qianhui Qu, Huabin Li, Jing Ke, Zhiji Chen, Menglong Feng, Hu Zhou, Yilai Shu, Wei Yuan   +12 more
wiley   +1 more source

Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease

Cell Transplantation, 2020
Fabry disease is caused by a decrease in or loss of the activity of alpha-galactosidase, which causes its substrates globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to accumulate in cells throughout the body. This accumulation results
Daisuke Kami, Masashi Yamanami, Takahiro Tsukimura, Hideki Maeda, Tadayasu Togawa, Hitoshi Sakuraba, Satoshi Gojo   +6 more
doaj   +1 more source