Results 41 to 50 of about 429,966 (219)

Inhibition of dipeptidyl peptidase 7 impairs lysophagy in LLOMe‐treated HepG2 cells

FEBS Letters, EarlyView.
DPP7 inhibition delays ubiquitin‐dependent lysophagy by attenuating ubiquitin accumulation and the recruitment of SQSTM1 and LC3 to damaged lysosomes, resulting in delayed clearance of damaged lysosomes and impaired restoration of lysosomal homeostasis. Created using FigureLabs (Certificate ID: FL‐PUB‐20260922‐Z99XNX).
Na Yeon Park, Inho Kwon, Yong Hwan Kim, Ji‐Eun Bae, Joon Bum Kim, Seong Hyun Kim, Sungho Maeng, Doo Sin Jo, Dong‐Hyung Cho   +8 more
wiley   +1 more source

Haploidentical Hematopoietic Cell Transplantation for Infants With X‐Linked Severe Combined Immunodeficiency Using Post‐Transplant Cyclophosphamide

Pediatric Blood &Cancer, EarlyView.
Shuhei Takahashi, Akito Kawachi, Dan Tomomasa, Eri Watanabe, Yuji Fujita, Yuya Sato, Masahiro Sekiguchi, Kentaro Watanabe, Moe Hidaka, Akihiro Hoshino, Takahiro Kamiya, Masatoshi Takagi, Hirokazu Kanegane, Motohiro Kato   +13 more
wiley   +1 more source

DNA ligase LigE increases bacterial transformation with damaged extracellular DNA

FEBS Letters, EarlyView.
The DNA ligase LigE from the naturally competent Gram‐negative bacterium Neisseria gonorrhoaea increases transformation with cut extracellular DNA. This process is ATP‐dependent and relies on the catalytic activity of LigE; it also requires that LigE contains an intact periplasmic localisation sequence, indicating that ligE functions in the periplasm ...
Jolyn Pan, Avi Singh, Shrawani Weralupe Gamladdalage, Joanna Hicks, Adele Williamson   +4 more
wiley   +1 more source

Going viral − Virus‐targeting nanobodies for research, diagnostics and therapy

FEBS Letters, EarlyView.
The increasing prevalence of viral diseases represents a major threat for global human health. Nanobodies, small binding fragments derived from camelid heavy‐chain antibodies, offer versatile tools for viral research, diagnostics, and antiviral therapy.
Domenic Ebert, Ulrich Rothbauer
wiley   +1 more source

Soft motions encoded by the fold and mediated by conserved hinge sites drive V‐ATPase allosteric machinery and autoinhibition

FEBS Letters, EarlyView.
Vacuolar H+‐ATPase (V‐ATPase) is a multisubunit rotary proton pump that acidifies intracellular compartments. Using elastic network models, we identified conserved hinge residues that govern its large‐scale functional motions. We show that intrinsically encoded ‘soft modes’ drive critical functional transitions, including rotary catalysis and ...
Diksha Parwana, Xiaowei Bogetti, Stuti Sharma, Ivet Bahar   +3 more
wiley   +1 more source

Familial co-occurrence of diffuse leiomyomatosis and Alport syndrome: a clinical case report

Сеченовский вестник
Alport syndrome (AS) is a hereditary nephropathy caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. Rare contiguous COL4A5–COL4A6 alterations cause AS with diffuse leiomyomatosis (AS-DL).Case report.
М. Boltaboeva, A. Haydarov, M. Ganieva, D. Kholmatov, O. Efimenko, L. Rakhmanova   +5 more
doaj   +1 more source

Rare genetic diseases of the bone tissue: the case of a family with osteogenesis imperfecta and X-linked hypophosphataemia

Остеопороз и остеопатии, 2018
Osteogenesis imperfecta (OI) and X-linked hypophosphataemia (XLH) are rare genetic diseases, which lead to childhood-onset bone fragility, low-trauma fractures and limb deformities. OI occurs as a result of impaired type 1 collagen synthesis at different
Irina Yu. Popova, Tatiana A. Grebennikova, Anatoly N. Tiulpakov, Kristina S. Kulikova, Liudmila Y. Rozhinskaya, Zhanna E. Belaya   +5 more
doaj   +1 more source

The role of miR‐335‐5p in the redifferentiation of BRAF p.V600E thyroid cancers

Molecular Oncology, EarlyView.
The BRAF p.V600E mutation promotes thyroid cancer dedifferentiation and radioiodine resistance. Using a network approach, we identified miR‐335‐5p as a key regulator of BRAF‐mutated thyroid tumors. Restoring miR‐335‐5p increased thyroid‐specific gene expression and iodine uptake in cells and organoids.
Valeria Pecce, Simone Bini, Marialuisa Sponziello, Giorgio Grani, Giulia Fiscon, Paola Paci, Lorenzo Farina, Rosa Falcone, Valentina Maggisano, Sebastiano Filetti, Cosimo Durante, Antonella Verrienti   +11 more
wiley   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Balkan Journal of Medical Genetics
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N   +7 more
doaj   +1 more source