Results 101 to 110 of about 460,260 (336)

Enzyme replacement therapy for Farber disease: Proof-of-concept studies in cells and mice

BBA Clinical, 2017
A series of studies were carried out in Farber disease (OMIM #228000) cells and mice to evaluate the feasibility of enzyme replacement therapy (ERT) for this disorder.
Xingxuan He, Shaalee Dworski, Changzhi Zhu, Victor A. DeAngelis, A. Sólyom, J. Medin, C. Simonaro, E. Schuchman   +7 more
semanticscholar   +1 more source

Cancer cell‐intrinsic type 1 interferon: production, signaling, and outcomes within sex‐biased, female malignancies

Molecular Oncology, EarlyView.
The cell‐autonomous roles of interferon type 1 vary based on duration and intensity. While acute, robust signaling results in cancer cell cytotoxic effects, sustained, low‐level signaling is associated with tumor‐promoting effects. This review summarizes current research of IFN‐1 in cancer and within the clinical setting, with an emphasis on female ...
Ashlyn Conant, Nora Badiner, Sharon Asariah, Kiera McGivney, Vishwa Shah, Tise Suzuki, Yevgeniya J. Ioffe, Juli J. Unternaehrer   +7 more
wiley   +1 more source

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Tei, C, B. Sachdev, Takenaka, T, W. J. Mckenna, Sachdev, B, H. Teraguchi, Elliott, PM, Teraguchi, H, C. Tei, P. Lee, T. Takenaka, McKenna, WJ, Lee, P, Hypertrophic Cardiomyopathy   +13 more
core  

Immune response to enzyme replacement therapy in lysosomal storage disorder patients and animal models [Review] [PDF]

, 1999
The lysosomal storage disorders (LSD) are a group of severe multiple pathology disorders characterized by enzyme deficiencies which cause the lysosomal accumulation of undegraded or partially degraded macromolecules.
Brooks, D.
core   +1 more source

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report

Journal of Medical Case Reports
Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction.
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta   +6 more
doaj   +1 more source

Proteasomal degradation of intracellularly expressed Amblyomin‐X limits suicide gene therapy potential in melanoma cells

FEBS Open Bio, EarlyView.
This study explores the feasibility of expressing the antitumoral protein Amblyomin‐X through a suicide gene therapy approach and investigates its intracellular fate after gene delivery. Although the gene is efficiently expressed, melanoma cells rapidly degrade the Amblyomin‐X protein via proteasome activity.
Victor Dal Posolo Cinel, Carlos DeOcesano Pereira, Aline Ramos Maia Lobba, Melissa Regina Fessel, Ana Marisa Chudzinski‐Tavassi   +4 more
wiley   +1 more source

Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas.
Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel   +7 more
doaj  

Large‐scale bidirectional arrayed genetic screens identify OXR1 and EMC4 as modifiers of αSynuclein aggregation

FEBS Open Bio, EarlyView.
Activation of the mitochondrial protein OXR1 increases pSyn129 αSynuclein aggregation by lowering ATP levels and altering mitochondrial membrane potential, particularly in response to MSA‐derived fibrils. In contrast, ablation of the ER protein EMC4 enhances autophagic flux and lysosomal clearance, broadly reducing α‐synuclein aggregates.
Sandesh Neupane, Lea Nikolić, Lorenzo Maraio, Thomas Goiran, Nathan Karpilovsky, Stefano Sellitto, Vangelis Bouris, Jiang‐An Yin, Ronald Melki, Edward A Fon, Adriano Aguzzi, Elena De Cecco   +11 more
wiley   +1 more source

Imaging of enzyme replacement therapy using PET [PDF]

, 2010
Direct enzyme replacement therapy (ERT) has been introduced as a means to treat a number of rare, complex genetic conditions associated with lysosomal dysfunction.
Brian P. Rempel, Doris J. Doudet, Michael J. Adam, Stephen G. Withers, Karen Colobong, Christopher P. Phenix, Lorne A. Clarke   +6 more
core   +1 more source

Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease.

Journal of the American Society of Nephrology, 2018
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by mutations of the α-galactosidase A gene. The lysosomal enzyme α -galactosidase A (GLA) mediates the hydrolysis of the terminal α -galactosyl moiety from globotriaosylceramide ...
Malte Lenders, E. Brand
semanticscholar   +1 more source