Herein, we review the multifaceted roles of proline in cell biology. This peculiar cyclic imino
acid is:(i) A main precursor of extracellular collagens (the most abundant human proteins) …

Abstract In 2016, the Movement Disorder Society Task Force for the Nomenclature of
Genetic Movement Disorders presented a new system for naming genetically determined …

Purpose We propose a nosology for inborn errors of metabolism that builds on their recent
redefinition. Methods We established a strict definition of criteria to develop a self-consistent …

Aldehyde dehydrogenases (ALDHs) defend intracellular homeostasis by catalyzing the
conversion of toxic aldehydes into non-toxic carboxylic acids, which is of particular …

Abstract Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease,
mainly characterized by progressive spasticity and weakness of the lower limbs resulting …

Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurological diseases
characterized by extreme heterogeneity in both their clinical manifestations and genetic …

Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose
redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber …

In recent years the number of disorders known to affect amino acid synthesis has grown
rapidly. Nor is it just the number of disorders that has increased: the associated clinical …

The bifunctional homooligomeric enzyme Δ1‐pyrroline‐5‐carboxylate synthetase (P5CS)
and its encoding gene ALDH18A1 were associated with disease in 1998. Two siblings who …

Mono-and bi-allelic variants in ALDH18A1 cause a spectrum of human disorders associated
with cutaneous and neurological findings that overlap with both cutis laxa and spastic …