Results 291 to 300 of about 218,218 (394)

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta Ophthalmologica, EarlyView.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs, Berith M. Balfoort, Marion M. Brands, Anneloor L. M. A. ten Asbroek, Camiel J. F. Boon, Roselie M. H. Diederen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Hans R. Waterham, Ronald J. A. Wanders, Riekelt H. Houtkooper, Clara D. van Karnebeek, Arthur A. Bergen   +12 more
wiley   +1 more source

Anti-tuberculosis drug-induced hepatotoxicity and associated risk factors among patients with pulmonary tuberculosis at a tertiary care hospital in Thailand. [PDF]

IJID Reg
Mukura S, Ruenwilai P.
europepmc   +1 more source

The microtubule-associated tau protein has intrinsic acetyltransferase activity

Nature Structural &Molecular Biology, 2013
T. Cohen, D. Friedmann, Andrew W. Hwang, R. Marmorstein, V. Lee   +4 more
semanticscholar   +1 more source

Stereological analysis of cholinergic neurons within bilateral pedunculopontine nuclei in health and when affected by Parkinson's disease

Brain Pathology, EarlyView.
(A) PPN‐cholinergic neurons degenerate during PD. We stereologically counted their rostro‐caudal distribution in post‐mortem PPNs in health versus PD. (Bi) Serial PPN‐containing samples were cholinergic antibody‐DAB stained. (Bii) Only DAB‐stained neurons on green lines and inside the box were counted.
Puneet Kumar Sharma, Steve Gentleman, David Trevor Dexter, Ilse Sanet Pienaar   +3 more
wiley   +1 more source

Molecular functional mechanisms of two alcohol acetyltransferases in <i>Lavandula x intermedia</i> (lavandin). [PDF]

Front Chem
Liu D, Du Y, Abdiriyim A, Zhang L, Song D, Deng H, Wen X, Zhang Y, Sun B.   +8 more
europepmc   +1 more source

Late‐onset multiple system atrophy: Neuropathological features associated with slow disease progression

Brain Pathology, EarlyView.
Late‐onset multiple system atrophy (LO‐MSA; onset ≥75 years) shows milder degeneration of the striatonigral and olivopontocerebellar systems and serotonergic neurons in the ventrolateral medulla than usual‐age‐onset MSA with a similar disease duration. LO‐MSA may therefore exhibit slower pathological progression.
Misato Ozawa, Rie Saito, Takuya Konno, Yasuko Kuroha, Tetsuhiko Ikeda, Akio Yokoseki, Takashi Tani, Tomoe Sato, Jiro Idezuka, Reiji Koide, Shigeru Fujimoto, Osamu Onodera, Mari Tada, Akiyoshi Kakita   +13 more
wiley   +1 more source

The multitalented TIP60 chromatin remodeling complex: wearing many hats in epigenetic regulation, cell division and diseases. [PDF]

Epigenetics Chromatin
Santopietro MV, Ferreri D, Prozzillo Y, Dimitri P, Messina G.   +4 more
europepmc   +1 more source

Persistence and expression of circular DNAs encoding Drosophila amylase, bacterial chloramphenicol acetyltransferase, and others in Xenopus laevis enbryos.

, 1989
Koichiro Shiokawa, Tsunevuki Yamazaki, Yuchang Fu, Kosuke Tashiro, Kunio Tsurugi, Mitsuyoshi Motizuki, Yoji Ikegami, Eiichi Araki, Toshiwo Andoh, Keiichi Hosokawa   +9 more
openalex   +2 more sources

Cerebellar defects are a primary pathology in mouse models of spinal muscular atrophy

Brain Pathology, EarlyView.
Purkinje cell (PC) degeneration is localized to posterior lobules in the cerebellum, and rescue of survival motor neuron protein expression levels in motor neurons does not ameliorate this effect. Representative images of sagittal cerebellar sections stained with anti‐calbindin in the vermis and hemisphere at P12 for wild type, ChATCre+ rescue (Rescue),
Nicholas C. Cottam, Morgan Dowling, Lingling Kong, Michelle Harran Chan‐Cortés, Christine J. Charvet, Naika Norzeron, Cameron Grover, Melissa A. Harrington, Charlotte J. Sumner, Jianli Sun   +9 more
wiley   +1 more source

The molecular basis for acetylhistidine synthesis by HisAT/NAT16. [PDF]

Nat Commun
Myllykoski M, Lundekvam M, Osberg C, Nilsen SS, Arnesen T.   +4 more
europepmc   +1 more source