A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren +5 more
wiley +1 more source
Transport of sphingolipids by yeast Npc2 supports phase separation of the vacuole membrane. [PDF]
Kim H +4 more
europepmc +1 more source
Background and Purpose Oxidative stress plays a critical role in the pathophysiology of various diseases, yet current methods for its non‐invasive detection remain limited. This study aimed to systematically validate a superoxide‐selective PET tracer, [18F]FPBT, for the early diagnosis and therapeutic monitoring of oxidative stress‐related conditions ...
Hua Zhang +10 more
wiley +1 more source
Significance of amino acid recycling from vacuoles for viability and sporulation of yeast cells under starvation conditions. [PDF]
Nakajo H +12 more
europepmc +1 more source
Methods to Study Mitochondrial Metabolism and Homeostasis in Fission Yeast
Yeast, EarlyView.
Ferran Gómez‐Armengol +2 more
wiley +1 more source
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]
Haschke AM +7 more
europepmc +1 more source
S1 guideline sweat gland carcinoma
Summary The current classification of sweat gland carcinomas is based on histomorphological characteristics and distinguishes between more than 20 entities. Most patients are older, but some subtypes also affect middle‐aged and younger patients. The majority of tumors arise de novo. Sweat gland carcinomas have nonspecific clinical features.
Mirjana Ziemer +19 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]
Kutukova KA +9 more
europepmc +1 more source
PEG400 regulates Falcipain 2 activity through an allosteric mechanism
Falcipain‐2 can potentially be leveraged as a drug target due to its critical role as a haemoglobinase during the intra‐erythrocytic stage of Plasmodium falciparum. Here, we investigate the regulation of the proteolytic and haemoglobinase activity of falcipain‐2 in the presence of polyethylene glycol.
Bikram Nath +2 more
wiley +1 more source

