Results 211 to 220 of about 289,777 (310)

YAP Promotes Microtubule Growth to Facilitate Sarcomere Disassembly in Adult Cardiomyocytes. [PDF]

Circulation
Zhang F, Cusick JK, Liang J, Wang F, Fernandes AT, Gafranek JT, Waxman JS, Chen Z, Yutzey KE, Liu S.   +9 more
europepmc   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Modifications of Lysine Residues 294 and 311 Within the Microtubule-Binding Region Alter Tau Aggregation and Tubulin Binding Equilibria. [PDF]

Angew Chem Int Ed Engl
Vogl DP, Migotti M, Konrat R, Conibear AC, Becker CFW.   +4 more
europepmc   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

ISOLATED MICROTUBULES [PDF]

The Journal of Cell Biology, 1965
openaire   +2 more sources

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Noncanonical Peloruside A Biosynthesis by an Uncultivated Verrucomicrobiota Symbiont

Angewandte Chemie, EarlyView.
Noncanonical biochemistry of the peloruside PKS characterized in this work, comprising double bond generation by a noncanonical tridomain (blue), acetyl‐CoA recycling (orange), and proofreading systems (purple and yellow). The Z‐double bond is installed by TEB1 through O‐acetylation and acetate elimination. The acyl ligase PelB (AL, orange) selectively
Amy E. Fraley, Michael Rust, Moritz Wagner, Ida R. Hipfinger, Paul J. N. Böhm, Cora L. Dieterich, Christopher M. Field, Michael J. Page, Jeremy G. Owen, Robert A. Keyzers, Shinichi Sunagawa, Jörn Piel   +11 more
wiley   +2 more sources

Maternal Huluwa regulates postfertilization microtubule array organization for asymmetrical transport of dorsal determinants in zebrafish. [PDF]

Nat Commun
Liu X, Cao F, Li Y, Aziz T, Lv T, Chen J, Wu X, Meng A.   +7 more
europepmc   +1 more source

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source