Results 61 to 70 of about 7,870 (178)

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Limitations and opportunities in the pharmacotherapy of ciliopathies

Pharmacology & Therapeutics, 2021
Ciliopathies are a family of rather diverse conditions, which have been grouped based on the finding of altered or dysfunctional cilia, potentially motile, small cellular antennae extending from the surface of postmitotic cells. Cilia-related disorders include embryonically arising conditions such as Joubert, Usher or Kartagener syndrome, but also ...
Max, Duong Phu, Stefan, Bross, Martin D, Burkhalter, Melanie, Philipp   +3 more
openaire   +2 more sources

HSD17B4 deficiency causes dysregulation of primary cilia and is alleviated by acetyl-CoA

Nature Communications
Primary cilia are dynamic sensory organelles orchestrating key signaling pathways, and disruption of primary ciliogenesis is implicated in a spectrum of genetic disorders. The peroxisomal bifunctional enzyme HSD17B4 is pivotal for peroxisomal β-oxidation
Ji-Eun Bae, Soyoung Jang, Joon Bum Kim, Na Yeon Park, Doo Sin Jo, Hyejin Hyung, Pansoo Kim, Min-Seon Kim, Hong-Yeoul Ryu, Hyun-Shik Lee, Dong-Seok Lee, Myriam Baes, Zae Young Ryoo, Dong-Hyung Cho   +13 more
doaj   +1 more source

A multiplex tissue resource for high‐resolution spatial protein profiling in the Human Protein Atlas

Protein Science, Volume 35, Issue 9, September 2026.
Abstract Spatially resolved protein expression is essential for understanding tissue organization, cellular specialization, and protein function. The open‐access Human Protein Atlas database (www.proteinatlas.org) has generated an extensive antibody‐based tissue resource for a majority of the human protein‐coding genes using conventional ...
Borbala Katona, Rutger Schutten, Filippa Bertilsson, Feria Hikmet, Per Adelsköld, Mattias Forsberg, Kalle von Feilitzen, Loren Méar, Mathias Uhlén, Cecilia Lindskog   +9 more
wiley   +1 more source

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies

Traffic, Volume 27, Issue 3, September 2026.
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Devin Frisby, Gunjan Misri, Naava Naslavsky, Steve Caplan   +3 more
wiley   +1 more source

Ciliopathies: an expanding disease spectrum [PDF]

Pediatric Nephrology, 2011
Ciliopathies comprise a group of disorders associated with genetic mutations encoding defective proteins, which result in either abnormal formation or function of cilia. As cilia are a component of almost all vertebrate cells, cilia dysfunction can manifest as a constellation of features that include characteristically, retinal degeneration, renal ...
Waters, Aoife M., Beales, Philip L.
openaire   +2 more sources

Identification of novel genes regulating the development of the palate

Developmental Dynamics, Volume 255, Issue 8, Page 808-823, August 2026.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Systematic Reanalysis of Whole‐Exome Sequencing in Genetically Unsolved Pediatric Primary Ciliary Dyskinesia

Pediatric Pulmonology, Volume 61, Issue 8, August 2026.
ABSTRACT Background Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder, and despite advances in next‐generation sequencing, a substantial proportion of clinically suspected pediatric cases remain without a molecular diagnosis.
Tilbe Hakçıl Öz, Tuğba Şişmanlar Eyüboğlu, Ayşe Tana Aslan, Nilgün Kula, Gülsüm Kayhan   +4 more
wiley   +1 more source

Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy

The FASEB Journal, Volume 40, Issue 14, 31 July 2026.
The identification of a patient carrying a novel homozygous p.(Gln206Ter) POC5 variant revealed a metabolic phenotype associated with POC5 deficiency. POC5 deficiency disrupts centriolar architecture and ciliary organization, leading to impaired proliferation, premature cellular senescence, and reduced insulin signaling.
Valeria Pistorio, Camille Vatier, Émilie Capel, Carine Beaupère, Martine Auclair, Virginie Steunou, Romain Morichon, Michael Joubert, Corinne Vigouroux, Jérémie Gautheron, Isabelle Jéru   +10 more
wiley   +1 more source

Primary cilia–extracellular vesicle crosstalk in Alzheimer's disease: Emerging mechanisms and biomarker potential

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Alzheimer's disease (AD) is a neurodegenerative condition marked by cognitive decline and synaptic issues. Recent studies show primary cilia (PCs), sensory organelles present on the surface of most mammalian cells, act as a critical regulators of brain homeostasis and signaling.
Vishal Singh Guleria, Charisse N. Winston   +1 more
wiley   +1 more source