Results 111 to 120 of about 5,553,804 (280)

HYPK‐Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic Features

Clinical Genetics, EarlyView.
We present the first published case of HYPK‐related neurodevelopmental disorder in a male proband with atypical facies, developmental delay, and autism spectrum disorder– like features. HYPK is a part of the NatA complex, like NAA10 and NAA15, with dysfunction leading to similar but milder features to those of Ogden Syndrome.
Rahi Patel, Rikhil Makwana, Elaine Marchi, Ziyi Fan, Erin Falsey, Beatriz Menendez, Philip Giampietro, Ingrid M. Wentzensen, Tzung‐Chien Hsieh, Shu‐ou Shan, Gholson J. Lyon   +10 more
wiley   +1 more source

Mitophagy and the therapeutic clearance of damaged mitochondria for neuroprotection [PDF]

, 2016
Mitochondria are the foremost producers of the cellular energy currency ATP. They are also a significant source of reactive oxygen species and an important buffer of intracellular calcium.
Bingol, Caviston, Chourasia, Cui, Daniel A. East, Duchen, East, East, Fei, Feng, Gatliff, Geisler, Guardia-Laguarta, Guo, Hanna, Jain, Jin, Kamat, Kawamata, Kim, Landes, Lee, Lee, Lefebvre, Lionaki, Liu, Lokireddy, Magrané, Martinez-Vicente, Martinou, Matic, Mattiazzi, Melser, Michalik, Michelangelo Campanella, Narendra, Narendra, Orr, Padman, Palomo, Pankiv, Panov, Pickrell, Quirós, Richter, Rugarli, Ryan, Sarraf, Schwarten, Shaw, Sheng, Shin, Stafa, Stoica, Strappazzon, Subramaniam, Tanti, Tsunemi, Valente, Van Humbeeck, Vives-Bauza, Wallace, Wang, Wang, Wu, Zhang, Zhu   +66 more
core   +1 more source

Aberrant Huntingtin Interacting Protein 1 in Lymphoid Malignancies [PDF]

Cancer Research, 2007
Abstract Huntingtin interacting protein 1 (HIP1) is an inositol lipid, clathrin, and actin binding protein that is overexpressed in a variety of epithelial malignancies. Here, we report for the first time that HIP1 is elevated in non–Hodgkin's and Hodgkin's lymphomas and that patients with lymphoid malignancies frequently had anti-HIP1 ...
Danielle Antonuk, Sarah V. Bradley, Lina Li, Peter C. Lucas, Mitchell R. Smith, Teresa S. Hyun, Theodora S. Ross, Indira Joshi, Fang Jin   +8 more
openaire   +3 more sources

PI5P4K inhibitors: promising opportunities and challenges

The FEBS Journal, EarlyView.
Developing inhibitors is like climbing a steep, challenging mountain. PI5P4K inhibitors hold significant promise for the treatment of cancer, immune disorders, and neurological diseases. However, the path to success is fraught with hurdles, and researchers are therefore required to apply their expertise to overcome critical “checkpoints.” While some ...
Koh Takeuchi, Lisa Nagase, Shun Kageyama, Hirotaka Kanoh, Masashi Oshima, Aki Ogawa‐Iio, Yoshiki Ikeda, Yuki Fujii, Sei Kondo, Natsuki Osaka, Takeshi Masuda, Tsukasa Ishihara, Yoshikazu Nakamura, Yoshihisa Hirota, Takehiko Sasaki, Toshiya Senda, Atsuo T. Sasaki   +16 more
wiley   +1 more source

Oxidative stress parameters in plasma of Huntington's disease patients, asymptomatic Huntington's disease gene carriers and healthy subjects : a cross-sectional study [PDF]

, 2007
BACKGROUND : Animal data and postmortem studies suggest a role of oxidative stress in the Huntington's disease (HD), but in vivo human studies have been scarce.
Babić, Tomislav, Hećimović, Silva, Klepac, Nataša, Klepac, Ratimir, Relja, Maja, Trkulja, Vladimir   +5 more
core   +1 more source

Applying antibodies inside cells: Principles and recent advances in neurobiology, virology and oncology [PDF]

, 2020
To interfere with cell function, many scientists rely on methods that target DNA or RNA due to the ease with which they can be applied. Proteins are usually the final executors of function but are targeted only indirectly by these methods.
Marschall, Andrea, Mejias, Rebeca, Roewe, Julian, Zhang, Congcong, Ötjengerdes, Rina M.   +4 more
core   +1 more source

Neferine Attenuates the Protein Level and Toxicity of Mutant Huntingtin in PC-12 Cells via Induction of Autophagy

Molecules, 2015
Mutant huntingtin aggregation is highly associated with the pathogenesis of Huntington’s disease, an adult-onset autosomal dominant disorder, which leads to a loss of motor control and decline in cognitive function.
V. Wong, Anguo Wu, J. Wang, Liang Liu, B. Law   +4 more
semanticscholar   +1 more source

Apoptotic Regulation by the Huntingtin Protein

, 2001
Title page and contents Chapter I - Introduction 1 A Matter of Death 1 1.1 Necrosis 1 1.1.1 Morphological Features of Necrosis 2 1.2 Apoptosis 2 1.2.1 Morphological Features of Apoptosis 3 1.3 Apoptosis and Necrosis: A Continuum? 4 2 The Molecular Components of Apoptosis 2.1 Death Receptors 5 2.2 Bcl-2 Family 6 2.3 Apaf-1 Family 7 2.4 Caspases 7 2.5 ...
openaire   +2 more sources

UBL3 Interacts with PolyQ-Expanded Huntingtin Fragments and Modifies Their Intracellular Sorting

Neurology International
Background/Objectives: UBL3 (Ubiquitin-like 3) is a protein that plays a crucial role in post-translational modifications, particularly in regulating protein transport within small extracellular vesicles. While previous research has predominantly focused
Soho Oyama, Hengsen Zhang, Rafia Ferdous, Yuna Tomochika, Bin Chen, Shuyun Jiang, Md. Shoriful Islam, Md. Mahmudul Hasan, Qing Zhai, A. S. M. Waliullah, Yashuang Ping, Jing Yan, Mst. Afsana Mimi, Chi Zhang, Shuhei Aramaki, Yusuke Takanashi, Tomoaki Kahyo, Yoshio Hashizume, Daita Kaneda, Mitsutoshi Setou   +19 more
doaj   +1 more source

A guide to heat shock factors as multifunctional transcriptional regulators

The FEBS Journal, EarlyView.
The heat shock factors (HSFs) are evolutionarily conserved transcription factors best known as regulators of molecular chaperone genes in response to heat shock and other protein‐damaging stresses. Vertebrate HSFs, HSF1‐5, HSFX, and HSFY, are implicated in various physiological and pathological processes, including organismal development and cancer ...
Hendrik S. E. Hästbacka, Alejandro J. Da Silva, Lea Sistonen, Eva Henriksson   +3 more
wiley   +1 more source