Results 171 to 180 of about 97,457 (192)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity. [PDF]

Invest Ophthalmol Vis Sci
Seo S, Sonn SK, Kweon HY, Jin J, Kume T, Ko JY, Park JH, Oh GT.   +7 more
europepmc   +1 more source

Tree shrew model of early diabetic retinopathy reveals microvascular dysfunction and identifies phosphoserine aminotransferase 1 as a novel therapeutic target

Animal Models and Experimental Medicine, EarlyView.
We developed an animal model of early diabetic retinopathy (DR) in the tree shrew by feeding a high‐fat and high‐sugar diet in combination with STZ. Physiological and biochemical index detection, hematoxylin and eosin staining, and transmission electron microscopy were performed to examine DR.
Min Qiu, Shurui Huo, Wenguang Wang, Na Li, Qingwei Zeng, Xiaomei Sun, Jiejie Dai, Pinfen Tong, Yuanyuan Han, Ling Zhao, Caixia Lu   +10 more
wiley   +1 more source

Efficient and cost-effective differentiation of induced neural crest cells from induced pluripotent stem cells using laminin 211. [PDF]

Regen Ther
Takahashi K, Aritomi S, Honkawa F, Asari S, Hirose K, Konishi A.   +5 more
europepmc   +1 more source

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

From Covalent Traps to Fluorescent Beacons: The Expanding Arsenal of Chemical Probes for Studying Ubiquitin and Ubiquitin‐Like Proteins

Angewandte Chemie, EarlyView.
A large variety of chemistry‐based ubiquitin probes have been developed. ABSTRACT Ubiquitin (Ub) and ubiquitin‐like proteins (Ubls) orchestrate diverse cellular processes through reversible post‐translational modification of target proteins. Their conjugation is governed by a cascade of E1 activating, E2 conjugating, and E3 ligating enzymes, while ...
Saibal Chanda, Wenshe Ray Liu
wiley   +2 more sources

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

A Novel Acetylcholine Nanosensor for Single Vesicle Storage and Sub‐Quantal Exocytosis in Living Neurons and Organoids

Angewandte Chemie, EarlyView.
Schematic representation of M@E@CF nanosensors for detecting vesicular storage and release in cholinergic neurons and brain organoids. (A) Nano‐tip microelectrodes modification via molds fabricated through 3D printing. (B) the reaction mechanism for acetylcholine detection at the electrode interface.
Wanying Zhu, Yufan Zhang, Hanwen Yu, Da Wang, Xinyue Zhang, Xiaowen Du, Shanshan Wu, Bingzhi Li, Yizhou Zhang, Hongliang Xin, Xing Guo, Yan Liu   +11 more
wiley   +2 more sources

Protein‐Template Gold Nanoclusters Induce Differentiation and Modify the Functional Properties of Primary Astrocytes

Advanced NanoBiomed Research, EarlyView.
The incubation of primary astrocytes with fAuNCs‐BSA induces: (A) long‐term effects including fAuNCs‐BSA internalization, red cell fluorescence, differentiation, upregulation of Ca2+ signaling, Cl‐current, and cell volume regulation. B) Short‐term (200 ms) stimulation with UV LED light increases in Ca2+ signaling and inhibition of K+ current. Astrocyte
Roberta Fabbri, Karima Jeneh Perry, Emanuela Saracino, Chiara Lazzarini, Anna Mariano, Diletta Spennato, Maria Grazia Mola, Maria Grazia Raucci, Alessandro Kovtun, Marianna Barbalinardo, Giorgia Conte, Denis Gentili, Marco Caprini, Vincenzo Palermo, Roberto Zamboni, Luigi Ambrosio, Wolfgang Losert, Andrea Candini, Grazia Paola Nicchia, Raj K. Gupta, Valentina Benfenati, Shashi P. Karna   +21 more
wiley   +1 more source

RanBP1 plays an essential role in directed migration of neural crest cells during development

, 2022
Barriga EH, Alasaadi DN, Mencarelli C, Mayor R, Pichaud F.   +4 more
europepmc   +1 more source