Results 161 to 170 of about 42,118 (292)

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +1 more source

Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers

Movement Disorders, EarlyView.
Abstract Background GBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease.
Julian Agin‐Liebes, Alexander Haimovich, Rachel Griep, Nathan Galen Hatcher, Lihang Yao, Cheryl Waters, Shalini Padmanabhan, Roy N. Alcalay   +7 more
wiley   +1 more source

Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models. [PDF]

Sci Transl Med
Ziółkowska EA, Jansen MJ, Williams LL, Wang SH, Eultgen EM, Takahashi K, Le SQ, Nelvagal HR, Sharma J, Sardiello M, DeBosch BJ, Dickson PI, Anderson JB, Sax SE, Wright CM, Bradley RP, Whiteman IT, Makita T, Grider JR, Sands MS, Heuckeroth RO, Cooper JD.   +21 more
europepmc   +1 more source

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 more
wiley   +1 more source

Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder. [PDF]

JCI Insight, 2019
Ahrens-Nicklas RC, Tecedor L, Hall AF, Lysenko E, Cohen AS, Davidson BL, Marsh ED.   +6 more
europepmc   +1 more source

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

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Rescue of a lysosomal storage disorder caused by Grn loss of function with a brain penetrant progranulin biologic. [PDF]

Cell
Logan T, Simon MJ, Rana A, Cherf GM, Srivastava A, Davis SS, Yoon Low RL, Chiu CL, Fang M, Huang F, Bhalla A, Llapashtica C, Prorok R, Pizzo ME, Calvert MEK, Sun EW, Hsiao-Nakamoto J, Rajendra Y, Lexa KW, Srivastava DB, van Lengerich B, Wang J, Robles-Colmenares Y, Kim DJ, Duque J, Lenser M, Earr TK, Nguyen H, Chau R, Tsogtbaatar B, Ravi R, Skuja LL, Solanoy H, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Dennis MS, Kariolis MS, Monroe KM, Przybyla L, Sanchez PE, Meisner R, Diaz D, Henne KR, Watts RJ, Henry AG, Gunasekaran K, Astarita G, Suh JH, Lewcock JW, DeVos SL, Di Paolo G.   +52 more
europepmc   +1 more source

Lysosomal storage disorder gene variants in multiple system atrophy. [PDF]

Brain, 2018
Pihlstrøm L, Schottlaender L, Chelban V, MSA Exome Consortium, Meissner WG, Federoff M, Singleton A, Houlden H.   +7 more
europepmc   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source