Results 151 to 160 of about 532,411 (388)

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future

Drug Design, Development and Therapy, 2017
David AH Whiteman,* Alan Kimura* Research & Development, Shire Human Genetic Therapies, Inc., Lexington, MA, USA *These authors contributed equally to this work Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is
Whiteman DAH, Kimura A
doaj  

Natural Products as Geroprotective Modulators in Diabetic Nephropathy: A Mechanistic Framework Integrating Aging Hallmarks and the AMPK–SIRT1–Nrf2 Axis

Aging and Cancer, EarlyView.
Natural products target the aging kidney in diabetic nephropathy by restoring the AMPK–SIRT1–Nrf2 axis, reducing oxidative stress, inflammation, fibrosis, and cellular senescence while enhancing mitochondrial biogenesis and antioxidant defenses.
Sherif Hamidu, Latif Adams, Eunice Ampem‐Danso, Justice Kumi, Abigail Aning, Fatima Hamidu, Mustapha Abdul Mumin Mohammed, Ayuba Nii Darku Ankrah, Seth Kwabena Amponsah   +8 more
wiley   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

A nonhuman primate model of inherited retinal disease. [PDF]

, 2019
Inherited retinal degenerations are a common cause of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 in 10,000 individuals, respectively.
Artemyev, Nikolai O, Boyd, Kimberly, Cameron, Ashley, Chen, Rui, Davis, Sarah, Garzel, Laura, Gopalakrishna, Kota N, Harris, R Alan, Huang, Yijun, Kim, Soohyun, Li, Yumei, Liang, Qingnan, Moshiri, Ala, Murphy, Christopher J, Pomerantz, Ori, Raveendran, Muthuswamy, Roberts, Jeffrey, Rogers, Jeffrey, Stout, J Timothy, Thomasy, Sara M, Wang, Jun, Yiu, Glenn   +21 more
core  

CX3CL1 in Early Detection of Alzheimer's Disease: Plasma Dynamics Across Age and Disease Stages

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Backgrounds Alzheimer's disease (AD) is characterized by amyloid‐beta plaques, tau tangles, and neuroinflammation. C‐X3‐C motif chemokine ligand 1 (CX3CL1, also known as fractalkine), a neuroimmune chemokine implicated in AD pathogenesis, shows inconsistent alterations in plasma/serum across studies.
Ling Wang, Yujie Liu, Fei Li, Xuelin Li, Lanlan Li, Jie Zhang, Yali Xu   +6 more
wiley   +1 more source

Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease [PDF]

, 2013
Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase.
Güngör, D. (Deniz)
core   +1 more source

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source

Enzyme replacement therapy for Fabry disease: some answers but more questions

Therapeutics and Clinical Risk Management, 2011
Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of ...
Majid Alfadhel, Sandra Sirrs
doaj  

Widespread correction of brain pathology in feline alpha-mannosidosis by dose escalation of intracisternal AAV vector injection

Molecular Therapy: Methods & Clinical Development
Alpha-mannosidosis is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues.
Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia O’Donnell, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe   +7 more
doaj   +1 more source

Hydroxychloroquine Associated With Lower Glomerular Filtration Rate Decline in Lupus Nephritis

Arthritis Care &Research, EarlyView.
Objective Hydroxychloroquine (HCQ) protects kidney function in lupus nephritis (LN) by preventing flares, yet some cohort studies show no significant benefit in kidney function with HCQ. Clarifying these conflicting findings by showing early and long‐term benefits of HCQ on kidney function preservation is critical.
Shivani Garg, Brad Rovin, Brad C. Astor, Tripti Singh, Fauzia Hollnagel, Megan Kuik, Lexie Kolton, Callie Saric, S. Sam Lim, Christie M. Bartels   +9 more
wiley   +1 more source