Results 171 to 180 of about 34,646 (215)

Sub-second volumetric 3D printing by synthesis of holographic light fields. [PDF]

Nature
Wang X, Ma Y, Niu Y, Xiong B, Zhang A, Zhang G, Chen Y, Wei W, Fang L, Wu J, Dai Q.   +10 more
europepmc   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Signal Peptide Engineering and Codon Optimization to Enhance α‐Gal A Activity for rAAV Gene Therapy of Fabry Disease

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Fabry disease is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A (α‐Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso‐Gb3) in various organs.
Siwu He, Li Yang, Ke Wan, Zhaoyue Zheng, Mi Leng, Chunmei Gan, Yu Liu, Lin Xiao, Jingya Ye, Zhian Chen, Jiao Zhou, C. Alexander Valencia, Aliah Abuammah, Hoi Yee Chow, Biao Dong, Yucheng Chen   +15 more
wiley   +1 more source

Dystrophin rescue in the brain for DMD. [PDF]

Mol Ther Nucleic Acids
Li M, Han R.
europepmc   +1 more source

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus–Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies

Muscle &Nerve, Volume 73, Issue 3, Page 485-489, March 2026.
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Anson W. Wilks, Nizar Chahin
wiley   +1 more source

Investigating the role of EGFR signalling in muscle dystrophies: implications for Duchenne muscular dystrophy. [PDF]

Cell Death Dis
Fernández-Simón E, Tejedera-Villafranca A, Fernández-Garabay X, Clark J, Monceau A, Villalobos E, Cox D, Azcón JR, Fernández-Costa JM, Manera JD.   +9 more
europepmc   +1 more source

Proteome‐Wide Analysis of Human Deletions

Proteins: Structure, Function, and Bioinformatics, Volume 94, Issue 3, Page 853-870, March 2026.
ABSTRACT Protein deletions are frequent among both natural and pathogenic variations. Many of them are misclassified in variation databases and the literature. Nonsense‐mediated decay prevents the expression of many nucleotide deletions. Many variants classified as protein deletions are not expressed at all.
Haoyang Zhang, Xinning Luan, Mauno Vihinen   +2 more
wiley   +1 more source

Protocol for in vivo analysis of muscle function in porcine models for muscular dystrophies. [PDF]

STAR Protoc
Hristov H, Blasi M, Neves Barbosa I, Kemter E, Kurome M, Kessler B, Zakhartchenko V, Klymiuk N, Stirm M, Jaudas F, Wolf E.   +10 more
europepmc   +1 more source

Dietary Spirulina Ameliorates Arsenic‐Induced Toxicity in Nile Tilapia, Oreochromis niloticus

Veterinary Medicine and Science, Volume 12, Issue 2, March 2026.
Arsenic contamination poses serious risks to Nile tilapia by reducing growth, feed efficiency and haemoglobin, while elevating blood glucose and muscle arsenic levels. This 56‐day feeding trial evaluated the protective role of spirulina (20 g/kg) under varying arsenic exposure.
Md Sazzad Hossain, Sonmoy Mohanta, Md Hamidur Rahman, Md Fazle Rohani, Md Kamrujjaman   +4 more
wiley   +1 more source