Results 161 to 170 of about 99,892 (263)

Expanding Spectrum of FIG4‐Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype–Phenotype Correlations

Clinical Genetics, EarlyView.
FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley   +1 more source

Transport of sphingolipids by yeast Npc2 supports phase separation of the vacuole membrane. [PDF]

J Biol Chem
Kim H, Lipp NF, Juarez-Contreras I, Wong AM, Budin I.   +4 more
europepmc   +1 more source

Establishment of Human Formative Pluripotent Stem Cell‐Like Cells Exhibiting Amniotic Differentiation Potentials

Cell Proliferation, EarlyView.
The hfPSC‐LCs could be established from naïve hESCs, conventional hESCs, hiPSCs, and human blastocysts. The hfPSC‐LCs hold robust capacity for three germ layers, hPGCLCs, and hALPCs. ABSTRACT Human embryos undergo pivotal morphogenetic remodelling shortly after implantation. The understanding of this crucial stage is severely impeded by the scarcity of
Xiaoxiao Wang, Qizhi Wang, Yu Wu, Chen Gu, Mingfei Li, Yong Fan, Xiangjin Kang, Lei Li, Zheng Gao, Mingyan Hei, Jianqiao Liu, Lei Li   +11 more
wiley   +1 more source

Significance of amino acid recycling from vacuoles for viability and sporulation of yeast cells under starvation conditions. [PDF]

Sci Rep
Nakajo H, Sekito T, Okamura R, Nakagawa S, Hamada N, Yamamoto Y, Yagi W, Ozaka N, Kimura T, Abe S, Sugimoto N, Akiyama K, Kawano-Kawada M.   +12 more
europepmc   +1 more source

Cervical Small Cell Neuroendocrine Carcinoma Initially Detected on Cytology: Diagnostic Pitfalls and Clues

Cytopathology, EarlyView.
This case describes the initial detection of cervical small cell neuroendocrine carcinoma on conventional endometrial and cervicovaginal liquid‐based cytology. Given its rarity and high aggressiveness, early recognition and rapid, intensive treatment are crucial for improving patient outcomes.
Yesul Jeong
wiley   +1 more source

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling. [PDF]

Acta Neuropathol Commun
Haschke AM, von Renesse A, Graceffo E, Morales-Gonzalez S, Prigione A, Hübner C, Stenzel W, Schuelke M.   +7 more
europepmc   +1 more source

Outbreak of poisoning by sodium hydrogen methylarsonate (MSMA)—an arsenic‐based herbicide—in horses in Brazil

Equine Veterinary Journal, EarlyView.
Abstract Background Arsenic poisoning in horses is rarely reported in the literature. However, arsenic compounds can be present in rodenticides, pesticides, and herbicides, representing a potential source of accidental exposure for horses. Objective To describe the epidemiological, clinical, and laboratory findings from a herd of 31 horses exposed to ...
Gabriella Faria Pereira, Maria Clara Hornich Blimbliem, Anna Laura Previato Rosa Machado, Junara Bianca Rosa Abdala, Geison Morel Nogueira, Hugo Shisei Toma, Tatiane Furtado de Carvalho, Diego José Zanzarini Delfiol   +7 more
wiley   +1 more source

TEM-based Study of the Phenotype of Astrocytes Differentiated from Induced Pluripotent Stem Cells from a Healthy Donor and a Patient with Parkinson's Disease. [PDF]

Sovrem Tekhnologii Med
Kutukova KA, Ivanov MV, Novosadova EV, Brydun AV, Arsenyeva EL, Novosadova LV, Kokorev IV, Grivennikov IA, Sukhorukov VS, Illarioshkin SN.   +9 more
europepmc   +1 more source

RNF13 is a previously undescribed interactor of iduronate 2‐sulfatase that modifies its glycosylation and maturation

The FEBS Journal, EarlyView.
Iduronate 2‐sulfatase (IDS; purple) is expressed as a precursor protein that goes through multiple steps of maturation, modification, and trafficking to become an active lysosomal enzyme that degrades glycosaminoglycans. Our study shows that the transmembrane ubiquitin ligases RNF13 (orange) and RNF167 (pink) heterodimerize, affecting IDS intracellular
Valérie C. Cabana, Antoine Y. Bouchard, Audrey M. Sénécal, Laurent Cappadocia, Marc P. Lussier   +4 more
wiley   +1 more source

Permanent weakness and myopathy in hypokalemic periodic paralysis. [PDF]

Acta Myol
Bossola M, Senatore A, Di Stasio E.
europepmc   +1 more source